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Gene: Krt71 MGI:1861586

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
keratin 71
Synonyms:
Cu,  Krt2-6g,  mK6irs1,  Ca,  mK6irs,  Cal4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Krt71 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.

The table below shows human diseases associated to Krt71 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896

The table below shows human diseases predicted to be associated to Krt71 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Pili Gemini
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... ORPHA:79492
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Acrokeratoderma, Hereditary Papulotranslucent
Skin plaque, Papule, Fine hair OMIM:101840
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... ORPHA:2722
Dermoodontodysplasia
Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
L-Ferritin Deficiency
Alopecia OMIM:615604
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Candidiasis, Familial, 1
Alopecia OMIM:114580
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Chand Syndrome
Curly hair, Commissural lip pit, Nail dysplasia OMIM:214350
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Kerion Celsi
Alopecia ORPHA:499
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Thin skin ORPHA:2500
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail d... ORPHA:1660
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair ORPHA:2985
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin ORPHA:1810
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Carvajal Syndrome
Woolly hair ORPHA:65282
Leopard Syndrome 2
Curly hair, Cafe-au-lait spot, Multiple lentigines, Webbed neck OMIM:611554
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin OMIM:132000
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... ORPHA:79133
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... ORPHA:158673
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Ename... ORPHA:79402
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Atrophic ... ORPHA:89838
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... ORPHA:113
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Subcutaneous nodule, Atrophic scars, Nail dystrophy, Dermal atrophy, Abnormal toenail m... ORPHA:89843
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... ORPHA:2028
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Milia, Atrophic scars, Nail dystrophy, Nail dysplasia OMIM:131750
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Skin ulcer, Melanocytic nevus, ... ORPHA:978
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Numerous nevi, Low posterior hairline, Multiple lentigines, W... OMIM:613707
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails OMIM:617364
Noonan Syndrome 6
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Multiple lentigines, Webbed ne... OMIM:613224
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Noonan Syndrome 5
Curly hair, Nevus, Sparse eyebrow, Cryptorchidism, Fine hair, Multiple lentigines, Small nail, We... OMIM:611553
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Webbed neck, Cryptorchidism OMIM:616559
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Epidermolysis Bullosa Dystrophica Neurotrophica
Diffuse slow skin atrophy, Nail dystrophy, Nail dysplasia OMIM:226500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... ORPHA:79499
Cardiofaciocutaneous Syndrome 3
Curly hair, Webbed neck OMIM:615279
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... ORPHA:1366
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair ORPHA:1174
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... ORPHA:75496
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo... ORPHA:2348
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Pili torti ORPHA:1573
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Thin skin, Hernia ORPHA:75497
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysp... ORPHA:217346
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... ORPHA:163654
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Trichotillomania
Alopecia OMIM:613229
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Noonan Syndrome 8
Cryptorchidism, Curly hair, Webbed neck OMIM:615355
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226700
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... OMIM:103285
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Enamel hypoplasia, Camptodactyly OMIM:619980
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Low anterior hairline, Skin ulcer... ORPHA:742
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cryptorchidism, Hypopigmented skin patches, Capillary malformation, Cafe-au-lait spot ORPHA:457485
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Polycy... ORPHA:79083
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Fetal Encasement Syndrome
Omphalocele, Thin skin, Congenital diaphragmatic hernia OMIM:613630
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Bazex-Dupre-Christol Syndrome
Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Noonan Syndrome 7
Curly hair, Numerous nevi, Webbed neck, Low posterior hairline OMIM:613706
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Smith-Kingsmore Syndrome
Cryptorchidism, Cafe-au-lait spot, Umbilical hernia, Curly hair OMIM:616638
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia OMIM:615704
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin ORPHA:1899
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail ORPHA:317
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow ORPHA:3406
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... ORPHA:525
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... ORPHA:257
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyeb... ORPHA:1807
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... ORPHA:280365
Familial Cervical Artery Dissection
Abnormality of connective tissue, Thin skin, Striae distensae ORPHA:36382
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ... ORPHA:90154
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Thin skin, Gener... ORPHA:238468
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... OMIM:150400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Aplasti... ORPHA:1812
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Noonan Syndrome 4
Curly hair, Sparse eyebrow, Cryptorchidism, Webbed neck, High anterior hairline OMIM:610733
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ... OMIM:614438
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... ORPHA:2963
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Inguinal hernia, Thin skin OMIM:225320
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia OMIM:219150
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Thick eyebrow, Nevus fl... OMIM:617360
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Webbed neck, Sparse hair OMIM:619745
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Breast aplasia, Thi... ORPHA:90153
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Thin skin ORPHA:157965
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Cryptorchidism, Widow's pea... OMIM:304110
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Epidermoid cyst, Sparse eyebrow, Nail dyst... OMIM:167210
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low poste... OMIM:617506
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair ORPHA:1883
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Marshall-Smith Syndrome
Generalized hirsutism, Thin skin ORPHA:561
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Curly hair OMIM:619435
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... OMIM:612350
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis ... ORPHA:79411
Hypomelanosis Of Ito
Alopecia OMIM:300337
Fg Syndrome 3
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Thin skin, Hirsutism, Striae distensae OMIM:219090
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... OMIM:234050
Silver-Russell Syndrome 2
Thin skin OMIM:618905
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Focal Dermal Hypoplasia
Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e... ORPHA:2092
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Periventricular Nodular Heterotopia
Thin skin, Hernia ORPHA:98892
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... OMIM:601345
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Thin skin OMIM:112250
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Recon Progeroid Syndrome
Hyperconvex thumb nails, Hirsutism, Thin skin, Absent lower eyelashes OMIM:620370
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Vulto-Van Silfhout-De Vries Syndrome
Sacral dimple, Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Cryptorchidism, Loose anagen hair, Long eyelashes... OMIM:607721
Chand Syndrome
Curly hair, Commissural lip pit, Skin erosion, Nail dysplasia ORPHA:1401
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Low posterior hai... OMIM:115150
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Nevus, Arthrogryposis multipl... OMIM:605275
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thin skin, Sparse hair OMIM:612199
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h... ORPHA:2221
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... OMIM:222470
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Cryptorchidism, Webbed neck, Cafe-au-lait spot OMIM:616564
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Abnormal dental enam... ORPHA:2710
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis OMIM:609638
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Glass Syndrome
Inguinal hernia, Long eyelashes, Thin skin, Nail dysplasia, Camptodactyly, Sparse hair OMIM:612313
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot OMIM:617804
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... ORPHA:920
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... ORPHA:1979
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Adams-Oliver Syndrome 4
Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita OMIM:615297
Trichohepatoneurodevelopmental Syndrome
Curly hair, Woolly hair, Synophrys, Coarse hair, Distal arthrogryposis, Long eyelashes, Hypoplast... OMIM:618268
Weaver Syndrome
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing... ORPHA:3447
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids, Joint contracture, Fle... OMIM:601812
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... ORPHA:1787
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... ORPHA:1520
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow OMIM:261990
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Ataxia-Telangiectasia
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Polycystic ovaries, Premature graying o... ORPHA:100
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of subcutaneous fat, Ovarian cyst, Thin skin OMIM:269880
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, Thin skin OMIM:201170
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... ORPHA:2309
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow ORPHA:230851
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Thin skin, Striae distensae OMIM:219080
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dys... OMIM:300887
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Hypopigmentation of hair, Inguinal hernia, Thin skin ORPHA:2719
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Thin skin, Campto... OMIM:617602
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail ORPHA:384
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Nail dystrop... ORPHA:2907
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Fine hair, Hernia ORPHA:1745
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Dermatosparaxis Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,... ORPHA:1901
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Multipl... ORPHA:3353
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Thin skin, Sparse hair, Umbilical hernia ORPHA:2962
Xeroderma Pigmentosum
Macule, Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic ... ORPHA:910
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Sézary Syndrome
Alopecia, Nail dystrophy ORPHA:3162
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Thin skin, Striae distensae OMIM:610475
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... ORPHA:1657
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair ORPHA:3236
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Umbilical hernia OMIM:130080
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Low anterior hairline, Long eyela... OMIM:619950
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Keutel Syndrome
Alopecia ORPHA:85202
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow OMIM:244450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Thin skin OMIM:615895
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair, Hernia of the abdom... ORPHA:3082
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, Sparse hair, Contr... OMIM:601559
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone... OMIM:129900
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Bresek Syndrome
Alopecia ORPHA:85284
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Monosomy 18P
Alopecia, Low posterior hairline ORPHA:1598
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Lipoatrophy, Abnormal hair morp... ORPHA:79474
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Decreased response to growth hormone stim... ORPHA:444077
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Osteogenesis Imperfecta, Type Ii
Thin skin OMIM:166210
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... OMIM:308300
Even-Plus Syndrome
Sparse hair, Aplasia cutis congenita, Synophrys, Highly arched eyebrow OMIM:616854
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries ORPHA:1643
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes OMIM:137940
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair OMIM:219200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair ORPHA:1806
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, Fine hair, Small nail, Decreased t... OMIM:300978
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis OMIM:252930
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Nail dystrophy, Nail dysplasia, Arthro... OMIM:226730
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... OMIM:151050
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... ORPHA:1647
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Webbed neck, Ne... OMIM:218040
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Thin skin, Ca... OMIM:200110
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hair, Fragile... OMIM:601675
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Sparse eyelashes OMIM:610768
Hall-Riggs Syndrome
Coarse hair, Abnormal dental enamel morphology, Slow-growing hair, Thick hair ORPHA:2107
Hemochromatosis, Type 1
Alopecia OMIM:235200
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia OMIM:226600
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Geroderma Osteodysplastica
Thin skin, Hernia ORPHA:2078
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Meier-Gorlin Syndrome 1
Hyperconvex nail, Cryptorchidism, Flexion contracture, Long eyelashes, Thin skin, Camptodactyly, ... OMIM:224690
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Fetal Hydantoin Syndrome
Cryptorchidism, Low posterior hairline, Coarse hair, Hernia, Hypoplastic fingernail ORPHA:1912
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita, Flexion contracture OMIM:612138
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Agenesis of pineal gland, Multiple joint contractures, Inguinal hernia, Numero... ORPHA:536471
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Striae distensae OMIM:610489
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... ORPHA:37
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Adrenoleukodystrophy
Alopecia OMIM:300100
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Cushing Disease
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Dorsocervical fat pad, Pituitary cortic... ORPHA:96253
Acrofacial Dysostosis, Catania Type
Preauricular pit, Inguinal hernia, Abnormal hair pattern, Cryptorchidism, Coarse hair, Webbed neck ORPHA:1786
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair OMIM:256500
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Thin skin, ... OMIM:208050
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... ORPHA:1231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair OMIM:613990
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hip contracture, Coarse hair, Knee flexion contracture OMIM:118650
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair OMIM:127550
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
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
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
X-Linked Agammaglobulinemia
Alopecia ORPHA:47
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Sparse scalp hair, Pancreatic cysts, Frontal upsweep of hair, Thin skin, Umbilical hernia, Fair hair OMIM:266920
Zttk Syndrome
Absent gallbladder, Curly hair, Sparse eyebrow, Flexion contracture, Broad eyebrow OMIM:617140
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Cryptorchidism, Fine hair OMIM:616817
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig... ORPHA:3322
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Ogden Syndrome
Inguinal hernia, Cryptorchidism, Fine hair, Capillary malformation, Aplasia/Hypoplasia of the eye... ORPHA:276432
Werner Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Abnormal hair whor... ORPHA:902
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont... ORPHA:158684
Ane Syndrome
Alopecia ORPHA:157954
Adams-Oliver Syndrome 5
Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Cutis marmorata telangiectatica c... OMIM:616028
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail ORPHA:974
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, Sparse hair ORPHA:391408
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nail dystrophy, Alopecia universalis OMIM:240300
Immunodeficiency 7
Patchy alopecia OMIM:615387
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Adams-Oliver Syndrome 3
Hypoplastic fifth fingernail, Aplasia cutis congenita OMIM:614814
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Tiger tail banding, Brittle hair, Trichorrhexis nodosa OMIM:616395
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Umbilical hernia ORPHA:536545
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Thin skin, Hiatus hernia ORPHA:3342
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Hydrocele testis OMIM:618810
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin OMIM:166200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Multiple joint contractures, Dentinogenesis imperfecta, Thin skin ORPHA:536467
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Limb joint contracture, Absent eyelashes, Sparse eyebrow, Flexion c... OMIM:275210
Galloway-Mowat Syndrome 9
Coarse hair, Hiatus hernia OMIM:619603
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Macs Syndrome
Sparse hair, Alopecia, Sparse eyebrow OMIM:613075
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ... ORPHA:3071
Gapo Syndrome
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes ORPHA:2067
Omenn Syndrome
Alopecia OMIM:603554
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Preauricular skin tag, Mongolian blue spot, Dry hair, Low anterior hairline OMIM:618569
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Thin skin, Hi... OMIM:615873
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy ORPHA:2833
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hirsutism ORPHA:79330
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Macule, Abnormal fingernail morp... ORPHA:1775
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Thick eyebrow ORPHA:1394
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Nevus, S... OMIM:613451
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Fine hair OMIM:620250
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... ORPHA:464
Biotinidase Deficiency
Alopecia OMIM:253260
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... ORPHA:1071
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Nevus OMIM:620072
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Sacral dimple, Cyst of the ductus choledochus, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... ORPHA:1340
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Dermal a... ORPHA:2108
Encephalocraniocutaneous Lipomatosis
Alopecia OMIM:613001
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Low posterior hairline ORPHA:2959
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Lipoatrophy, Decreased response to growth... ORPHA:3455
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Molluscoid pseudotumors, Inguinal hernia, Thin skin OMIM:225400
Schimke Immunoosseous Dysplasia
Macule, Hypermelanotic macule, Bilateral cryptorchidism, Fine hair, Coarse hair OMIM:242900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... OMIM:248370
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, White hair, Fine hair ORPHA:935
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair OMIM:236200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hirsutism ORPHA:90795
Macrocephaly/Autism Syndrome
Hydrocele testis, Coarse hair OMIM:605309
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Alopecia universalis OMIM:606367
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Striae ... ORPHA:99889
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy OMIM:614008
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Eec Syndrome
Aplasia/Hypoplasia of the skin, Slow-growing hair, Decreased response to growth hormone stimulati... ORPHA:1896
Koolen-De Vries Syndrome
Cryptorchidism, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair ... ORPHA:96169
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis OMIM:263700
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Absent gallbladder, Curly hair, Broad lateral eyebrow ORPHA:500150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism ORPHA:189427
Alstrom Syndrome
Alopecia OMIM:203800
Trisomy 20P
Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Cryptorchidism, Low ... ORPHA:261318
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis ORPHA:293978
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Low posterior hairline, Coarse hair, Long ... OMIM:617303
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Preauricular skin tag, Fine hair OMIM:616202
Celiac Disease, Susceptibility To, 1
Alopecia OMIM:212750
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertrichosis ORPHA:168569
Vascular Ehlers-Danlos Syndrome
Macule, Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Cryp... ORPHA:286
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Cryptorchidism, Knee flexion contracture, Fine hair, Arthrogr... ORPHA:85201
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Abnormality of hair texture ORPHA:79351
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, C... OMIM:612394
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Atrophic scars, Nail dystrophy, Ap... ORPHA:79396
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Melanocy... OMIM:277590
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Giant Cell Arteritis
Alopecia ORPHA:397
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Opitz-Kaveggia Syndrome
Skin tags, Inguinal hernia, Multiple joint contractures, Sacral dimple, Cryptorchidism, Fine hair... OMIM:305450
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... ORPHA:2637
Biotinidase Deficiency
Alopecia ORPHA:79241
Colchicine Poisoning
Alopecia ORPHA:31824
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Panniculitis ORPHA:33577
Lateral Meningocele Syndrome
Inguinal hernia, Cryptorchidism, Coarse hair, Umbilical hernia, Keloids OMIM:130720
Koolen-De Vries Syndrome
Cryptorchidism, Sacral dimple, Fair hair, Abnormality of hair texture OMIM:610443
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
Leigh Syndrome
Alopecia, Frontal hirsutism, Hypertrichosis ORPHA:506
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Cryptorchidism, Dermal atrophy, Join... OMIM:615381
Loeys-Dietz Syndrome
Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin ORPHA:60030
Mucopolysaccharidosis, Type Iiid
Inguinal hernia, Synophrys, Achilles tendon contracture, Hirsutism, Elbow flexion contracture, Co... OMIM:252940
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Inguinal hernia, Hypoplasia of the thymus, Uncombable hai... ORPHA:84064
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Multiple joint contractures, Concave na... ORPHA:33364
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Nevus, Cryptorchidism, ... ORPHA:2990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Brittle hair OMIM:619184
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Long e... ORPHA:261349
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Thin skin, Flexion contracture of finger, W... OMIM:618175
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Flexion contracture, Fine hair OMIM:618891
Poikiloderma With Neutropenia
Sparse eyebrow, Low posterior hairline, Dermal atrophy, Nail dystrophy, Sparse lateral eyebrow OMIM:604173
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... ORPHA:2909
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Webbed neck, Sparse hai... OMIM:613563
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alopecia, Breast apl... OMIM:181270
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Preauricular skin tag, Cryptorchidi... OMIM:601358
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... OMIM:263650
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Dermal atrophy, S... OMIM:234100
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Behcet Syndrome
Patchy alopecia OMIM:109650
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of skin, Thin ... ORPHA:285
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ... OMIM:164200
Mucopolysaccharidosis, Type Vii
Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thick eyebrow OMIM:253220
Xeroderma Pigmentosum Variant
Dermal atrophy ORPHA:90342
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, S... ORPHA:565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Nail dystrophy ORPHA:37042
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Nail dystrophy, Alopecia universalis ORPHA:158668
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Noonan Syndrome
Abnormal hair quantity, Cryptorchidism, Melanocytic nevus, Low posterior hairline, Coarse hair, W... ORPHA:648
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair ORPHA:251028
Systemic Sclerosis
Alopecia, Nail bed telangiectasia ORPHA:90291
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair ORPHA:444072
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia ORPHA:536532
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail OMIM:308050
Insulin-Resistance Syndrome Type B
Alopecia, Hirsutism ORPHA:2298
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Brittle hair ORPHA:2750
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... OMIM:305000
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Low anterior hair... OMIM:209885
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Autoimmune Polyendocrinopathy Type 4
Alopecia ORPHA:227990
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221008
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair ORPHA:548
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Hypoplastic... ORPHA:235
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skin erosion, Flexion contracture, Atypical scarring of skin, Nail dysplasia, Nevus, Aplasia cuti... ORPHA:89842
Autoimmune Polyendocrinopathy Type 3
Alopecia ORPHA:227982
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Frontal balding, Fine hair ORPHA:139399
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Thick eyebrow OMIM:300534
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Abnormal hair morphology, Cryptorchidism, Atypical... OMIM:133540
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Highly arched eyebrow, Fine hair, Hydrocele testis, Webbed neck, Umbilical herni... OMIM:280000
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221016
Dermatomyositis
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Skin ulcer, Cellulitis, Chondrocalcinosis... ORPHA:221
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... ORPHA:2273
Autosomal Recessive Robinow Syndrome
Alopecia, Long eyelashes, Fingernail dysplasia ORPHA:1507
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... ORPHA:3107
Hajdu-Cheney Syndrome
Inguinal hernia, Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Co... ORPHA:955
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, White hair, Knee flexion contracture, Fine hair, Umbi... ORPHA:576
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita, Enamel hypoplasia, Nail dystrophy ORPHA:79403
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Synophrys, Sparse hair, Aplasia cutis congenita, Toenail dysplasia, Hirsutism OMIM:300966
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synop... OMIM:602535
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology ORPHA:1782
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... OMIM:305600
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Localized hypoplasia of dental ... ORPHA:73223
Chime Syndrome
Sparse hair, Skin ulcer, Fine hair ORPHA:3474
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail ORPHA:79404
Phakomatosis Pigmentokeratotica
Patchy alopecia ORPHA:2874
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Atrichia... OMIM:308205
Lyme Disease
Skin nodule, Dermal atrophy ORPHA:91546
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia OMIM:619321
Mucopolysaccharidosis Type 3
Inguinal hernia, Thick hair, Synophrys, Flexion contracture, Coarse hair, Umbilical hernia, Gener... ORPHA:581
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cryptorchidism, Atypical scarring... OMIM:216400
Localized Scleroderma
Abnormal skin adnexa morphology, Patchy alopecia ORPHA:90289
Relapsing Polychondritis
Alopecia ORPHA:728
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Atypical scarring of skin, ... ORPHA:198
Mucolipidosis Ii Alpha/Beta
Inguinal hernia, Brittle hair, Sparse eyebrow, Camptodactyly, Sparse hair, Umbilical hernia, Arth... OMIM:252500
Cranioectodermal Dysplasia 1
Inguinal hernia, Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair, Enamel hypoplasia OMIM:218330
Oculoectodermal Syndrome
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Pineal cyst, Preauricular skin tag OMIM:600268
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair ORPHA:363958
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent nipple, Cryptorchidism, Synophrys,... OMIM:612289
Desmosterolosis
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:35107
Occipital Horn Syndrome
Coarse hair, Pili torti, Hiatus hernia OMIM:304150
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Subacute Cutaneous Lupus Erythematosus
Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Inguinal hernia, Sacral dimple, Congenital diaphragmatic hernia, Pre... OMIM:135900
Melnick-Needles Syndrome
Omphalocele, Coarse hair, Frontal hirsutism OMIM:309350
Distal Deletion 12Q
Unilateral cryptorchidism, Pituitary adenoma, Elbow flexion contracture, Fine hair, Small nail, A... ORPHA:96149
Kikuchi-Fujimoto Disease
Alopecia ORPHA:50918
Restrictive Dermopathy
Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse eyebrow, Aplasia/Hypopla... ORPHA:1662
Branchiooculofacial Syndrome
Preauricular pit, Supernumerary nipple, Cryptorchidism, Lower lip pit, Elbow flexion contracture,... OMIM:113620
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Congenital diap... ORPHA:2556
Steinert Myotonic Dystrophy
Early balding, Alopecia ORPHA:273
Ogden Syndrome
Inguinal hernia, Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Long eyelashes, Cap... OMIM:300855
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Flexi... ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Crypt... ORPHA:534
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair, Flexion contracture, Enamel hypoplasia ORPHA:90324
Myhre Syndrome
Cryptorchidism, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow OMIM:139210
Chronic Graft Versus Host Disease
Alopecia, Onycholysis, Nail dystrophy ORPHA:99921
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99413
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:881
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv... ORPHA:99226
Renpenning Syndrome 1
Brittle hair, Camptodactyly, Sparse hair, Joint contracture of the hand, Decreased testicular siz... OMIM:309500
Noonan Syndrome 1
Cryptorchidism, Low posterior hairline, Webbed neck, Woolly hair, Cafe-au-lait spot OMIM:163950
Neuroocular Syndrome
Sacral dimple, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Umbili... OMIM:619539
Cutis Marmorata Telangiectatica Congenita
Multiple cafe-au-lait spots, Skin erosion, Aplasia/Hypoplasia of the skin, Blue nevus ORPHA:1556
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contracture of the distal interphalangeal j... ORPHA:83617
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Cryptorchidism, Fine hair, Contractures of the lar... ORPHA:191
Kindler Syndrome
Ridged nail, Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy OMIM:173650
Coffin-Lowry Syndrome
Inguinal hernia, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Uterine prolapse, T... OMIM:303600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys... ORPHA:740
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Flexion contracture, Atrophic scars, Nail dystrophy, Aplasia cutis congen... ORPHA:79408
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Sarcoidosis
Alopecia ORPHA:797
African Trypanosomiasis
Alopecia ORPHA:3385
Toriello-Lacassie-Droste Syndrome
Aplasia/Hypoplasia of the skin ORPHA:3339
Liver Disease, Severe Congenital
Dry hair, Inguinal hernia, Biliary hyperplasia, Blue nevus, Hydrocele testis, Nail dystrophy, Umb... OMIM:619991
Viss Syndrome
Sparse scalp hair, Alopecia, Hirsutism OMIM:619472
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Unilateral cryptorchidism, Decreased response to ... OMIM:613406
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... OMIM:601803
Alström Syndrome
Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Frontal balding, Te... ORPHA:64

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 Krt71

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 Krt71.

No publications found that use IMPC mice or data for Krt71.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Krt71tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Krt71tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Krt71em1(IMPC)Bay Exon Deletion Mice
Krt71tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Krt71tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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