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Gene: Sgk3 MGI:2182368

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serum/glucocorticoid regulated kinase 3
Synonyms:
fy,  Cisk,  A330005P07Rik,  cytokine-independent survival kinase,  2510015P22Rik

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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 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
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Atrichia, Nail dysplasia, S... OMIM:614931
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Aredyld
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails, Absent toenail OMIM:614927
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... ORPHA:499
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... ORPHA:34217
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
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... OMIM:602400
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
L-Ferritin Deficiency
Alopecia OMIM:615604
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:620199
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Ectodermal dysplasia ORPHA:401911
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis OMIM:618546
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... ORPHA:346
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 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Sparse scalp hair, Hair-nail ectodermal dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse or a... OMIM:602401
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Scaling skin, Sparse hair... OMIM:604536
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Hypohidrosis, Palmoplantar kerato... OMIM:618535
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... OMIM:618625
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Hyperhidrosis OMIM:615279
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... ORPHA:90368
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia OMIM:212360
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... OMIM:613102
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis OMIM:613576
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Polyphagia OMIM:620195
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse... ORPHA:1660
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas OMIM:615704
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis ORPHA:1810
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail ORPHA:79394
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... OMIM:614594
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis... ORPHA:317
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms OMIM:616351
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Bazex-Dupre-Christol Syndrome
Eczema, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Acne invers... OMIM:301845
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Leopard Syndrome 3
Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low posterior hairline OMIM:613707
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis ORPHA:181
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... OMIM:615280
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Vomiting OMIM:256850
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... OMIM:620075
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis OMIM:617524
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... OMIM:612843
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Aggressive behavior, Chronic constipation, Self-injurious behavior, Gastroesophageal ... OMIM:300986
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... ORPHA:494
2Q23.1 Microdeletion Syndrome
Hyperactivity, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyphagia, Self-... ORPHA:228402
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures ORPHA:71526
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Naxos Disease
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, Erythroderma,... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... OMIM:242300
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Leopard Syndrome 2
Curly hair OMIM:611554
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Trichohepatoenteric Syndrome 2
Brittle hair, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Uncombable hair,... OMIM:614602
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Sparse scalp hair, Hypohidrosis OMIM:605827
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... ORPHA:79395
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Hyperkeratosis, Palmopla... OMIM:242100
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Hyperkeratosis, Abnormality of the nail ORPHA:2584
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Fg Syndrome 3
Hyperactivity, Fine hair, Chronic constipation, Frontal upsweep of hair, Sparse hair OMIM:300406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Curly hair, Dysphagia, Low posterior hairline OMIM:613706
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia ORPHA:177910
Noonan Syndrome 8
Hyperkeratosis, Curly hair OMIM:615355
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hepatitis, Hyperkeratosis, Onycholysis ORPHA:525
Ritscher-Schinzel Syndrome 4
Curly hair, Impulsivity, Aggressive behavior, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair... OMIM:615821
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter ORPHA:411515
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec... OMIM:616576
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis OMIM:125595
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Highly arched eyebrow, Pica, Low posterior hairline, Gastroesophageal reflux, Constip... OMIM:617360
Noonan Syndrome 5
Sparse eyebrow, Curly hair, Small nail, Fine hair OMIM:611553
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... ORPHA:1807
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Hypotrichosis 3
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... OMIM:613981
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Neonatal hypoglycemia ORPHA:457485
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis ORPHA:1366
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... OMIM:167210
Systemic Lupus Erythematosus 17
Alopecia, Malar rash, Optic neuritis, Myelitis OMIM:301080
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia OMIM:616638
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma OMIM:618840
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia OMIM:247100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Agitation, ... ORPHA:276580
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... OMIM:614941
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail... ORPHA:140936
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Hyperkeratosis, On... ORPHA:1028
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Constipation OMIM:273390
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Increased serum iron, Hypoalbuminemia, Abnormality of iron h... OMIM:222470
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... OMIM:257980
Chops Syndrome
Curly hair, Gastroparesis, Thick hair, Synophrys, Coarse hair, Long eyelashes, Gastroesophageal r... OMIM:616368
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Bronchiectasis, ... OMIM:618282
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... ORPHA:2617
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, ... ORPHA:3051
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Highly arched eyebrow, Aggressive behavior ORPHA:261229
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Palmoplantar hype... ORPHA:659
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Transaldolase Deficiency
Premature skin wrinkling, Telangiectasia ORPHA:101028
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hypoglycemic seizures, Polyphagia, Hyperbilirubinemia OMIM:609734
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair OMIM:224900
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Long eyelashes, Hypocalcemia, Polyphagia, Neonatal hypoglycemia OMIM:606407
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia ORPHA:1867
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Ifap Syndrome 2
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... OMIM:619016
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... OMIM:234050
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Palmoplantar hyperhidrosis, Nail dystrophy OMIM:270300
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Thick hair, Low anterior hairline, Cutis laxa, Sacral hypertrichosis... ORPHA:363705
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal... OMIM:301029
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Chronic diarrhea, Steatorrhea, Coarse hair, Long eyelashes, Hypoplastic ni... OMIM:618268
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Tongue thrusting, Low posterior ... OMIM:115150
Hypomelanosis Of Ito
Alopecia OMIM:300337
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Frontal balding ORPHA:1942
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair OMIM:619745
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... ORPHA:3253
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Diarrhea, Synophrys, Coarse hair, Hirsutism OMIM:252920
Lamellar Ichthyosis
Chronic otitis media, Hyperkeratosis, Erythroderma, Sparse hair, Abnormality of the nail, Aplasia... ORPHA:313
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Postnatal growth retardation, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Sulfite Oxidase Deficiency, Isolated
Agitation, Episodic vomiting, Elevated circulating creatine kinase concentration, Fine hair OMIM:272300
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Hypohidrosis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sic... ORPHA:1806
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline OMIM:610733
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Fine hair, Generalized h... ORPHA:2221
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Hypohidrosis ORPHA:884
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sclerosing... OMIM:607626
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Postnatal growth retardation, Sparse scalp hair, Fine hair ORPHA:2324
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair ORPHA:2316
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Nail dystrophy, Erythroderma ORPHA:3162
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hashimoto thyroiditis ORPHA:3143
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Hypoglycemia, Fine h... ORPHA:2710
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Schaaf-Yang Syndrome
Impulsivity, Constipation, Gastroesophageal reflux, Skin-picking, Polyphagia, Thick eyebrow OMIM:615547
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Severe periodontitis, Recu... ORPHA:678
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Chronic constipatio... OMIM:617506
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Synophrys, Diarrhea, Coarse hair, Dysphagia, Hirsutism, Hypertrichosis OMIM:252930
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... ORPHA:399
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Chronic mucocutaneous candidiasis, Hypohidrosis, Inflammation of the large intestine, Rec... ORPHA:98813
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... ORPHA:47
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Diarrhea, Synophrys, Coarse hair, Hirsutism OMIM:252900
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... ORPHA:1010
Intellectual Developmental Disorder, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Postnatal growth retardation, Synophrys, Spar... OMIM:611091
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia ORPHA:397941
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Palmoplantar keratoderma OMIM:618373
Luscan-Lumish Syndrome
High anterior hairline, Polyphagia, Hirsutism, Aggressive behavior OMIM:616831
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis ORPHA:79242
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Pili torti, Fragile nails, Sp... OMIM:261990
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... ORPHA:363618
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Hirsutism OMIM:615830
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Hyperactivity, Loose anagen hair, Long eyelashes, Attention defici... OMIM:607721
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Hypoglycemia, Hyperammonemia, Dysphagia OMIM:618253
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
2Q32Q33 Microdeletion Syndrome
Sparse hair, Attention deficit hyperactivity disorder, Aggressive behavior, Fine hair ORPHA:251019
Trichotillomania
Alopecia OMIM:613229
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis OMIM:610768
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Even-Plus Syndrome
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow OMIM:616854
Alg8-Cdg
Premature skin wrinkling, Abnormality of subcutaneous fat tissue, Cutis laxa ORPHA:79325
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Keutel Syndrome
Recurrent otitis media, Alopecia, Recurrent sinusitis ORPHA:85202
Temple Syndrome
Postnatal growth retardation, Recurrent hypoglycemia, Polyphagia, Type II diabetes mellitus ORPHA:254516
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Cog7-Cdg
Excessive wrinkled skin, Jaundice ORPHA:79333
Cebalid Syndrome
Thick eyebrow, Polyphagia, Highly arched eyebrow OMIM:618774
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... OMIM:308300
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... ORPHA:3322
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Hyperkeratosis OMIM:616564
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Arthritis, Membranous nephropathy, Recurrent sinusitis, Recurrent otitis media OMIM:615559
Ataxia-Telangiectasia
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Premature gray... ORPHA:100
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... OMIM:150400
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Hyperkeratosis, Low posterior hairline OMIM:605275
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... OMIM:231070
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Gastroesophageal r... ORPHA:72
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... OMIM:137940
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret... ORPHA:2457
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Tonne-Kalscheuer Syndrome
Concave nail, Aggressive behavior, Fine hair, Self-injurious behavior, Small nail, Dysphagia OMIM:300978
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, Low posterior hairline,... OMIM:156200
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti... OMIM:615577
Barber-Say Syndrome
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... OMIM:209885
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Exces... OMIM:601358
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Keratoconjunctivitis sicca... OMIM:601675
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Dysphagia OMIM:620001
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis ORPHA:3453
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow OMIM:256500
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Synophrys, Low posterior hairline, Compulsive behaviors, Thin eyebrow, Spars... OMIM:619320
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Impulsivity, Low anterior hairline, Bruxism, Stereotypical hand wringing, Chronic con... OMIM:619950
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Polyphagia OMIM:617885
Chand Syndrome
Curly hair, Nail dysplasia, Hypohidrosis ORPHA:1401
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... ORPHA:978
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... ORPHA:477
Omenn Syndrome
Alopecia, Pneumonia, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Kury-Isidor Syndrome
Recurrent otitis media, Alopecia, Hypertrichosis OMIM:619762
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia, Highly arched eyebrow ORPHA:1715
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti... ORPHA:37
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... OMIM:614438
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Secondary Short Bowel Syndrome
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Constipation, V... ORPHA:95427
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... ORPHA:97279
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling ORPHA:263487
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Hawkinsinuria
Sparse hair, Restlessness, Hypertyrosinemia OMIM:140350
Graves Disease, Susceptibility To, 1
Hyperactivity, Onycholysis, Polyphagia OMIM:275000
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Fine hair, Chronic constipation, Tics, Inappropriate laughter, Obsessive-compulsiv... ORPHA:363686
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Hypohidrosis, Palmoplanta... ORPHA:158668
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Synophrys, Low anterior hairline, Fine hair, Severe postnatal gr... ORPHA:391408
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
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
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... OMIM:106260
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline ORPHA:284180
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Chronic constipation, Synophrys, Abnormal repetitive mannerisms, Fine hair OMIM:619428
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline OMIM:617883
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the sweat glands, Sparse hair OMIM:612132
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Recurrent hypoglycemia, Fine hair OMIM:616817
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline ORPHA:1387
Cutis Laxa, Autosomal Recessive, Type Iiia
Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Sparse hair, Episodic vo... OMIM:219150
Leptin Receptor Deficiency
Diabetes mellitus, Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo... ORPHA:464
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Chronic active hepatitis, Atrophic gastritis, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... ORPHA:357074
Short Syndrome
Premature skin wrinkling, Prominent superficial veins OMIM:269880
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Postnatal growth retardation, Fine hair, Sparse hair, Polyphag... ORPHA:251028
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gl... OMIM:608612
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Bresek Syndrome
Alopecia ORPHA:85284
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ... OMIM:305100
Monosomy 18P
Alopecia, Low posterior hairline ORPHA:1598
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... ORPHA:1071
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,... OMIM:615934
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impulsivity, Xerostomia, Chronic constipation, Gastroesophageal reflux,... ORPHA:398069
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Severe postn... ORPHA:35173
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Chronic constipation, Gastroesophageal reflux, Hyperconvex nail OMIM:619721
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Bulimia, Self-injurious behavior, Abn... ORPHA:98793
Adnp Syndrome
Sparse scalp hair, Oral-pharyngeal dysphagia, Aggressive behavior, Chronic constipation, Vomiting... ORPHA:404448
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Bulimia, Self-injurious behavior, Abn... ORPHA:177904
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... ORPHA:217346
Joubert Syndrome 37
Sparse hair OMIM:619185
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Bulimia, Self-injurious behavior, Abn... ORPHA:177901
Argininosuccinic Aciduria
Dry hair, Brittle hair, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into... OMIM:207900
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia OMIM:226600
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Xerostomia, Type II diabetes mellitus, Abnormal temper tantrums, Skin-p... ORPHA:398079
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Self-injurious behavior, Compulsive behaviors, Sparse hair, Abnormal repe... OMIM:613174
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Thick hair, Progeroid facial appearance ORPHA:357058
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Bulimia, Self-injurious behavior, Abn... ORPHA:98754
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... OMIM:190350
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Alopecia, Pancreatitis ORPHA:412057
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair OMIM:613451
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... OMIM:200110
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Prema... OMIM:612289
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Hemochromatosis, Type 1
Alopecia OMIM:235200
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Immunodeficiency 7
Recurrent otitis media, Patchy alopecia, Chronic oral candidiasis OMIM:615387
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr... OMIM:127550
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia ORPHA:3163
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Hypoplast... ORPHA:3071
Mixed Connective Tissue Disease
Alopecia, Pericarditis, Skin rash, Myositis, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi... ORPHA:809
Pediatric Systemic Lupus Erythematosus
Alopecia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis ORPHA:93552
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Aggressive behavior, Low anterior hairline, Hirsutism, Woolly hair, Broad ... OMIM:619244
Costello Syndrome
Deep-set nails, Curly hair, Hypoglycemia, Thin nail, Concave nail, Sparse hair, Fragile nails OMIM:218040
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Adrenoleukodystrophy
Alopecia OMIM:300100
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Stuve-Wiedemann Syndrome 1
Sparse hair, Premature skin wrinkling OMIM:601559
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Omenn Syndrome
Alopecia, Pneumonia, Erythroderma OMIM:603554
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Fg Syndrome Type 1
Frontal upsweep of hair, Facial wrinkling ORPHA:93932
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma ORPHA:169154
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... ORPHA:37042
Macs Syndrome
Alopecia, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Sparse hair OMIM:613075
Zttk Syndrome
Sparse eyebrow, Curly hair, Chronic diarrhea, Broad eyebrow OMIM:617140
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa ORPHA:75496
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Impulsivity, Synophr... OMIM:619503
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi... OMIM:606367
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... ORPHA:1340
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Synophrys, Fine hair, Gastroesophageal reflux, Long eyelashes OMIM:620250
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... ORPHA:1775
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Small nail ORPHA:166035
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... ORPHA:544488
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Aggressive behavior, Synophrys, Diarrhea, Hirsutism, Dysphagia, Oppo... OMIM:252940
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis ORPHA:560
Werner Syndrome
Alopecia of scalp, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcifi... OMIM:277700
Werner Syndrome
Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal hair whorl, ... ORPHA:902
Aredyld Syndrome
Type I diabetes mellitus, Type II diabetes mellitus, Sparse body hair, Aplasia/Hypoplasia of the ... ORPHA:1133
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Constipation, Sparse hair, Fair ... OMIM:250250
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair OMIM:613990
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair OMIM:305450
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Gastroparesis, Xerostomia, Vomiting, Attention defic... ORPHA:739
Weaver Syndrome
Deep-set nails, Thin nail, Fine hair, Sparse hair, Polyphagia OMIM:277590
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Recon Progeroid Syndrome
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... OMIM:620370
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br... OMIM:612940
Alstrom Syndrome
Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Postnatal growth retardation, Hirsutism, Stereotypical hand wringing, Long e... OMIM:212066
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail ORPHA:974
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology ORPHA:1647
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Thyroid... ORPHA:293978
Ane Syndrome
Alopecia ORPHA:157954
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Trichorrhexis nodosa OMIM:616395
Giant Cell Arteritis
Arthritis, Alopecia, Pericarditis, Hyperhidrosis ORPHA:397
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Diarrhea, Xerostomia, Constipation ORPHA:36397
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... ORPHA:69085
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior, Constipation,... OMIM:616364
Relapsing Polychondritis
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis OMIM:269200
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Abnormality of hair texture, Hyposerinemia, Gastroesophageal reflux, Vomiting, Es... ORPHA:79351
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Uveitis, Hypohidrosis, Hyperkeratosis, Iritis, Spars... ORPHA:548
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis OMIM:109650
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... ORPHA:920
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Prader-Willi Syndrome
Hypopigmentation of hair, Hyperinsulinemia, Self-injurious behavior, Frontal upsweep of hair, Typ... OMIM:176270
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia, Hyperinsulinemia ORPHA:66628
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Self-injurious behavior, Long ... OMIM:615485
Celiac Disease, Susceptibility To, 1
Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis OMIM:212750
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Cut... OMIM:606721
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Fine hair, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Com... OMIM:618891
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... OMIM:618000
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia, Hyperinsulinemia ORPHA:179494
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow OMIM:613026
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Elevated 8-dehydrocholesterol, El... OMIM:302960
Gapo Syndrome
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes ORPHA:2067
Galloway-Mowat Syndrome 9
Coarse hair, Gastroesophageal reflux OMIM:619603
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Ectoderma... OMIM:103285
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology, Hypohidrosis ORPHA:2036
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at... OMIM:608594
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Sparse anterior scalp hair, Polyphagia, Self-i... ORPHA:96121
Pediatric-Onset Graves Disease
Hyperactivity, Diarrhea, Polydipsia, Polyphagia ORPHA:525731
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abn... ORPHA:2273
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Brittle hair, Oral-pharyngeal dysphagia OMIM:619184
Autosomal Dominant Hypocalcemia
Alopecia, Eczema, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Postnatal growth retardation, Fine hair, Premature graying of hair, Intestinal bleeding, Nail dys... OMIM:612199
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Gastroparesis, Sparse eyebrow, Chronic diarrhea, Gastroesophageal reflux, Dysphagia, ... ORPHA:500150
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Spars... ORPHA:2962
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Diarrhea, Hyperammonemia, Fine hair,... OMIM:222700
Colchicine Poisoning
Hyponatremia, Alopecia, Diarrhea, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia... ORPHA:31824
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Hyperinsulinemia, Insulin-resistant diabetes melli... OMIM:269700
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp... ORPHA:2108
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Small nail... ORPHA:2909
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis,... ORPHA:168569
Systemic Sclerosis
Alopecia, Osteomyelitis, Pericarditis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... ORPHA:90291
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Monosomy 22
Sparse hair, Synophrys, Hyperhidrosis ORPHA:96123
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Acne, Hirsutism ORPHA:90795
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hirsutism ORPHA:79330
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Glass Syndrome
Restlessness, Hyperactivity, Aggressive behavior, Long eyelashes, Nail dysplasia, Sparse hair, Fr... OMIM:612313
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Scarf Syndrome
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline OMIM:312830
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo... ORPHA:227990
Cranioectodermal Dysplasia 3
Sparse hair, Short nail, Broad nail, Fine hair OMIM:614099
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Acne, Hirsutism ORPHA:189427
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Oral-pharyngeal dysphagia, Postnatal growth retardation, Synophrys, Gastroesophageal reflux, Cons... OMIM:300966
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Aplastic/hypoplastic toenail, Hypohidrosis, Fine hair, Aplasia/Hypoplasia o... ORPHA:1812
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... ORPHA:740
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis ORPHA:79396
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling OMIM:618947
Ogden Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... ORPHA:90348
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Eczema, Recurrent skin inf... OMIM:308205
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo... ORPHA:227982
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Constipation, Gastroesophageal reflux OMIM:616449
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Sparse axillary hair, Anorexia, Diarrhea... ORPHA:95409
Congenital Disorder Of Glycosylation, Type Iie
Excessive wrinkled skin, Jaundice, Low anterior hairline, Hypertrichosis OMIM:608779
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Fine hair, Premature skin wrinkling, Cutaneous pho... ORPHA:191
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Low posterior hairline ORPHA:2959
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypermethioninemia, Hyperhomocystinemia OMIM:236200
Encephalocraniocutaneous Lipomatosis
Alopecia OMIM:613001
Complete Androgen Insensitivity Syndrome
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair ORPHA:99429
Juvenile Dermatomyositis
Alopecia, Pericarditis, Skin rash, Myositis, Arthritis ORPHA:93672
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Systemic Lupus Erythematosus
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis ORPHA:536
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Bone Marrow Failure Syndrome 3
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:617052
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Thick eyebrow, Fine hair OMIM:614800
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Nail dystrophy, Sparse hair, Alopecia of scal... ORPHA:436252
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Sparse eyebro... OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Diamond-Blackfan Anemia 21
Synophrys, Chronic diarrhea, Widow's peak, Coarse hair, Horizontal eyebrow OMIM:620072
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Wrinkly Skin Syndrome
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... OMIM:278250
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Conjunctivitis, Hypertrichosis OMIM:263700
Agel Amyloidosis
Dry skin, Cutis laxa, Nail dystrophy, Sparse hair, Bruising susceptibility, Dermatological manife... ORPHA:85448
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism OMIM:617303
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Chronic diarrhea, Polyphagia, Bruxism, Constipatio... OMIM:615873
Hamamy Syndrome
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... OMIM:611174
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Hyperkeratosis, Small nail, Orthokeratosis OMIM:308050
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy OMIM:614008
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Anhidrosis, Thin nail OMIM:617799
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Dermal translucenc... ORPHA:3455
Laron Syndrome
Prematurely aged appearance ORPHA:633
Rothmund-Thomson Syndrome Type 1
Calcinosis, Alopecia totalis, Diarrhea, Sparse or absent eyelashes, Vomiting, Nail dysplasia, Att... ORPHA:221008
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Gastritis, Bloody diarrhea, Colitis, Abnormality of iron ... ORPHA:84064
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Redundant skin ORPHA:1860
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Diabetes mellitus, Insulin resistance, Abnormal circulating lipid concentration OMIM:616541
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Keppen-Lubinsky Syndrome
Premature skin wrinkling, Progeroid facial appearance ORPHA:435628
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
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
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia... OMIM:181270
Down Syndrome
Sparse hair ORPHA:870
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled skin, Bruising susceptibi... ORPHA:758
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Prematurely aged appearance, Concave na... ORPHA:33364
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hypohidrosis, Hyperkeratosis, Coarse hai... ORPHA:1896
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Woodhouse-Sakati Syndrome
Alopecia, Diabetes mellitus, Hyperlipidemia, Fine hair, Sparse hair OMIM:241080
Insulin-Resistance Syndrome Type B
Alopecia, Skin rash, Pneumonia, Osteoarthritis, Nephritis, Hirsutism ORPHA:2298
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Constipation, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:619934
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Hyperhidrosis, Premature... OMIM:305000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Leigh Syndrome
Alopecia, Frontal hirsutism, Eczema, Hypertrichosis ORPHA:506
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Genitopatellar Syndrome
Sparse scalp hair, Gastroesophageal reflux, Fine hair ORPHA:85201
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Gastroesophageal reflux OMIM:607812
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Attention deficit hyperactivity ... ORPHA:261349
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline, Head-banging OMIM:618569
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Coarse hair, Nail dysplasia OMIM:612394
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Onychogryposis OMIM:248370
Addison Disease
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Sparse axillary hair, Anorexia, Diarrhea... ORPHA:85138
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails OMIM:164200
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair OMIM:242900
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance ORPHA:808
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair OMIM:614114
Adrenomyeloneuropathy
Abnormal circulating fatty-acid concentration, Bowel incontinence, Frontal balding, Fine hair ORPHA:139399
Sympathetic Ophthalmia
Alopecia, Posterior uveitis, Poliosis ORPHA:79098
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Mucopolysaccharidosis Type 3
Hyperactivity, Thick hair, Aggressive behavior, Hypersexuality, Synophrys, Coarse hair, Constipat... ORPHA:581
Rothmund-Thomson Syndrome Type 2
Calcinosis, Alopecia totalis, Diarrhea, Sparse or absent eyelashes, Vomiting, Nail dysplasia, Spa... ORPHA:221016
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Uveitis, Arthritis, Patchy alopecia, Esophagitis, Has... ORPHA:90289
Xeroderma Pigmentosum
Keratitis, Hyperkeratosis, Alopecia, Blepharitis ORPHA:910
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Encopresis, Gastroesophageal reflux, Constipation, Nail dysplasia, Sparse hair, Abnormal repetiti... OMIM:616682
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Constipation, Sparse eyebrow, Hypocholesterolemia OMIM:244450
Cerebellofaciodental Syndrome
Sparse eyebrow, Aggressive behavior, Fine hair OMIM:616202
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Alopecia, Periodontitis ORPHA:536532
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis ORPHA:2874
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue ORPHA:1901
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair OMIM:234100
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Polyphagia, Self-injurious behavior, Gastroesophageal reflux, Horizo... ORPHA:1606
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
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Postnatal growth retarda... ORPHA:235
Premature Aging Syndrome, Penttinen Type
Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:601812
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media ORPHA:2750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Breast hypoplasia ORPHA:432
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypoglycemia, Sparse hair, Woolly hair ORPHA:565
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Gout OMIM:300661
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... OMIM:263650
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hairline, Sparse hair OMIM:613563
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... ORPHA:79474
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures ORPHA:79444
Neurocardiofaciodigital Syndrome
Sparse hair, Patent ductus arteriosus, Sparse eyebrow OMIM:619869
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Urticaria, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin ORPHA:220295
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, ... ORPHA:73223
Focal Dermal Hypoplasia
Alopecia, Abnormality of the nail ORPHA:2092
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Gastrointestinal inflammation, Pyoder... ORPHA:79404
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Premature graying of hair, Abno... ORPHA:280365
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Cockayne Syndrome B
Sparse hair, Anhidrosis, Dry hair, Abnormal hair morphology OMIM:133540
Chime Syndrome
Sparse hair, Hyperkeratosis, Fine hair ORPHA:3474
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ch... OMIM:304150
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... ORPHA:293987
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... OMIM:615919
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures ORPHA:79443
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Alopecia, Long eyelashes, Fingernail dysplasia ORPHA:1507
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Postnatal growth retardation, Gluc... OMIM:619127
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Fasting hyperinsulinemia, Polyphagia ORPHA:300373
Craniopharyngioma
Postnatal growth retardation, Polyphagia, Type II diabetes mellitus ORPHA:54595
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Synophrys, Oppositional defiant disorder, Gastroesophageal reflux, Horizonta... OMIM:607872
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Sparse hair, Thick eyeb... OMIM:602535
Kikuchi-Fujimoto Disease
Alopecia, Skin rash, Pustule, Myocarditis, Malar rash ORPHA:50918
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hypoalbuminemia, Nail dystrophy, ... OMIM:614748
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Thick eyebrow OMIM:300534
Gangliocytoma
Polyphagia ORPHA:251937
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... OMIM:216400
Mucolipidosis Ii Alpha/Beta
Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Severe postnatal growth retard... OMIM:252500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Prematurely aged appearance, Dry skin OMIM:610965
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair OMIM:218330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Bruising susceptibility, Poor wound healing OMIM:225400
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Eczema, Hyperkeratosis, Recurrent otitis media, Fair hair ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Eczema, Hyperkeratosis, Recurrent otitis media, Fair hair ORPHA:363958
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... ORPHA:3107
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Highly arched eyebrow, Aggressive behavior, Sparse eyebrow, Synophrys, Low ant... OMIM:619841
Acquired Generalized Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79086
Bloom Syndrome
Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Cheilitis, Uveitis, Patchy alopecia, Rhinitis... ORPHA:125
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Patent ductus arteriosus OMIM:620005
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... ORPHA:2834
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Sparse hair, ... OMIM:280000
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Urinary bladder inflammation, Bronchiectasis, Arthritis, Keratoconjunctiviti... ORPHA:99921
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyebrow ORPHA:175
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hypoammonemia, Fine hair, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Abnormality of hair texture ORPHA:667
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Maturity-onset diabetes of the young, Fine hair, Small nail, Ob... ORPHA:96149
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin ORPHA:500
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Brittle hair, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia OMIM:124000
Myhre Syndrome
Sparse hair, Patent ductus arteriosus, Thick eyebrow, Fine hair OMIM:139210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia OMIM:619321
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Sparse eyebrow, Gastroesophageal reflux, Nail dystrophy, Hypoplastic nipples, Unco... OMIM:620186
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Low posterior hairline ORPHA:648
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair OMIM:151050
Campomelia, Cumming Type
Prematurely aged appearance ORPHA:1318
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Sparse body hair, Sparse axillary hair ORPHA:90796
Cranioectodermal Dysplasia 2
Sparse hair, Patent ductus arteriosus, Sparse eyelashes, Sparse eyebrow OMIM:613610
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... ORPHA:955
Cockayne Syndrome Type 2
Progeroid facial appearance ORPHA:90322
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Chronic gastritis, Recurrent pneumonia, Hyperhidrosis, Hypohidr... OMIM:150230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Scleromyxedema
Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Roberts Syndrome
Sparse hair ORPHA:3103
Occipital Horn Syndrome
Gastroparesis, Thick hair, Coarse hair, Gastroesophageal reflux, Esophagitis, Dysphagia ORPHA:198
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Liver Disease, Severe Congenital
Hyponatremia, Chronic gastritis, Dry hair, Elevated circulating alpha-fetoprotein concentration, ... OMIM:619991
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... ORPHA:99413
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... ORPHA:99226
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... ORPHA:881
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Severe postnatal growth retardati... OMIM:210710
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance OMIM:616914
Cockayne Syndrome Type 3
Premature graying of hair, Mild postnatal growth retardation, Dry hair, Gastroesophageal reflux ORPHA:90324
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Primrose Syndrome
Sparse scalp hair, Restlessness, Diabetes mellitus, Absent facial hair, Elevated circulating alph... OMIM:259050
African Trypanosomiasis
Alopecia, Pericarditis, Keratitis, Myocarditis, Optic neuritis, Conjunctivitis, Iritis, Myelitis ORPHA:3385
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism, Eczema OMIM:617157
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Progeroid facial appearance OMIM:610651
Arterial Tortuosity Syndrome
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa OMIM:208050
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Aggressive behavior, Postnatal growth retardation, Hypoplastic fifth... OMIM:135900
Sarcoidosis
Alopecia, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Tubulointerstitial ... ORPHA:797
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... OMIM:305600
Steinert Myotonic Dystrophy
Early balding, Alopecia ORPHA:273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Parakeratosis ORPHA:83617
Menke-Hennekam Syndrome 1
Chronic constipation, Gastroesophageal reflux, Long eyelashes, Sparse hair, Thick eyebrow OMIM:618332
Cockayne Syndrome Type 1
Cutaneous photosensitivity, Progeroid facial appearance ORPHA:90321
Lenz-Majewski Hyperostotic Dwarfism
Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Hypoplastic fingernail ORPHA:2658
Vascular Ehlers-Danlos Syndrome
Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... ORPHA:286
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperactivity, Hyperconvex nail, Aggressive behavior, Fine hair, G... OMIM:613406
Coffin-Lowry Syndrome
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Branchiooculofacial Syndrome
Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ... OMIM:113620
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... OMIM:619539
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Frag... ORPHA:287
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Sparse axillary hair, Erythema, Premature graying of hair, Hypertric... OMIM:256040
Viss Syndrome
Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Hirsutism OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Progeroid facial appearance, Cutis laxa OMIM:613177
Cerebrotendinous Xanthomatosis
Prematurely aged appearance, Prolonged neonatal jaundice ORPHA:909
Alström Syndrome
Hypertriglyceridemia, Frontal balding, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Fine... ORPHA:64
Noonan Syndrome 1
Postnatal growth retardation, Woolly hair, Low posterior hairline OMIM:163950
Branchioskeletogenital Syndrome
Synophrys, Absent nipple, Periorbital wrinkles, Highly arched eyebrow ORPHA:1299
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ... OMIM:601803
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance OMIM:614098
Roberts-Sc Phocomelia Syndrome
Sparse hair, Patent ductus arteriosus OMIM:268300
Williams Syndrome
Hypoplastic toenails, Abnormal fingernail morphology, Redundant skin, Prematurely aged appearance ORPHA:904

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 Sgk3

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 Sgk3.

No publications found that use IMPC mice or data for Sgk3.

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