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Gene: Krt75 MGI:1923500

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Gene Summary

Name:
keratin 75
Synonyms:
K6hf,  4732468K03Rik,  Krtcap1,  Krt2-6hf

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Krt75em1(IMPC)Mbp HOM Early adult 8.28×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Krt75 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 Krt75 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Abnormality of the nail ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Abnormal hair morphology, Abnormality of the nail OMIM:607654
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Marie Unna Hereditary Hypotrichosis
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... ORPHA:444
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair OMIM:234030
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Hypotrichosis 12
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... OMIM:194300
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:211390
Pili Torti, Early-Onset
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... OMIM:261900
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes OMIM:616099
Carvajal Syndrome
Woolly hair ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair ORPHA:202
Hypotrichosis 7
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... OMIM:604379
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair OMIM:615896
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... ORPHA:1808
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ectodermal Dysplasia 7, Hair/Nail Type
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... OMIM:614929
Trichodental Dysplasia
Slow-growing hair, Sparse hair, Fine hair, Brittle hair OMIM:601453
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair OMIM:607903
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Bjornstad Syndrome
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... ORPHA:1433
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair OMIM:129490
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair OMIM:104100
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... ORPHA:113
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... OMIM:129500
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair ORPHA:34217
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... ORPHA:90368
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... OMIM:613573
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Sparse hair, Fine hair OMIM:615278
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... OMIM:225060
Amaurosis-Hypertrichosis Syndrome
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair ORPHA:1021
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
Skin Fragility-Woolly Hair Syndrome
Alopecia, Sparse eyebrow, Woolly hair, Sparse eyelashes, Nail dystrophy OMIM:607655
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... OMIM:234050
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair OMIM:301845
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Pachyonychia Congenita 2
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... OMIM:167210
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair OMIM:614602
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Onychotrichodysplasia And Neutropenia
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... OMIM:258360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair OMIM:619691
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Progeroid Syndrome, Petty Type
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... ORPHA:2963
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture ORPHA:1520
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Weaver Syndrome
Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail ORPHA:3447
Acrogeria
Fine hair ORPHA:2500
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Nail dystrophy, Coarse hair ORPHA:75389
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... OMIM:300953
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Curly hair, Coarse hair OMIM:616351
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Netherton Syndrome
Brittle scalp hair, Sparse scalp hair, Sparse eyebrow, Brittle hair OMIM:256500
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... OMIM:257980
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Uncombable hair, Slow-growing hair ORPHA:3082
Leopard Syndrome 2
Curly hair OMIM:611554
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Abnormal hair morphology, Spa... ORPHA:634
Mucopolysaccharidosis, Type Iiib
Synophrys, Hirsutism, Coarse hair OMIM:252920
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Adult Syndrome
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... ORPHA:978
Mucopolysaccharidosis, Type Iiia
Synophrys, Hirsutism, Coarse hair OMIM:252900
Distal Trisomy 6P
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair ORPHA:1745
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Multiple rows of eyelashes, Nail dysplasia, Low posterior hairline, Curly eyelashes, ... ORPHA:163654
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Synophrys, Long eyelashes, Thick eyebrow, Highly arched eyebrow OMIM:617412
Trichodermodysplasia-Dental Alterations Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Brittle hair, Fine ... ORPHA:3353
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Rapp-Hodgkin Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... OMIM:129400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Noonan Syndrome 6
Long eyebrows, Curly hair, Sparse hair, Low posterior hairline OMIM:613224
Trichothiodystrophy 1, Photosensitive
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Fine hair, Fragil... OMIM:601675
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Coarse hair ORPHA:2107
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Mucopolysaccharidosis, Type Iiic
Synophrys, Hirsutism, Hypertrichosis, Coarse hair OMIM:252930
Cardiofaciocutaneous Syndrome 4
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Sparse hair OMIM:615280
Noonan Syndrome 5
Fine hair, Small nail, Sparse eyebrow, Curly hair OMIM:611553
Revesz Syndrome
Fine hair, Nail pits, Ridged fingernail, Sparse hair, Nail dystrophy OMIM:268130
Tonne-Kalscheuer Syndrome
Concave nail, Small nail, Fine hair OMIM:300978
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Brittle hair, Coarse hair OMIM:219200
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Low posterior hairline, Coarse hair ORPHA:1912
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Braddock-Carey Syndrome 1
Curly hair, Sparse hair OMIM:619980
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Leukonychia, Thin eyebrow, Fine hair, Thin nail, Concave nail, Sparse hai... OMIM:190350
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Woolly hair, Hirsutism, Highly arched eyebrow, Low anterior hairline OMIM:619244
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Breast aplasia, Supernumerary nipple, Fine hair, Nail pits, ... OMIM:308300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Curly hair, Sparse hair, Sparse eyebrow OMIM:620075
Jaberi-Elahi Syndrome
Sparse eyebrow, Brittle hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:617988
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Subungual hyperkeratosis,... OMIM:601214
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Nail dysplasia, Sparse hair, Sparse or a... ORPHA:217346
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Scarring alopecia of scalp, Abnormality of the nail, Abnormal hair pattern, Patch... ORPHA:35173
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Nail dysplasia, Coarse hair, Sparse hair, Nail dystrophy OMIM:158310
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Costello Syndrome
Hypoplastic toenails, Deep-set nails, Woolly hair, Abnormal fingernail morphology, Concave nail, ... ORPHA:3071
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Low anterior hairline, Fine hair ORPHA:391408
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Noonan Syndrome 8
Curly hair OMIM:615355
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic toenail, Sparse eyebrow, Supernumerary nipple, Hyperconvex nail, Hyperconvex fingernai... ORPHA:1071
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Cerebrofaciothoracic Dysplasia
Coarse hair, Synophrys, Abnormal hair pattern, Low posterior hairline, Thick eyebrow ORPHA:1394
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Nail dysplasia, Fine hair, Premature graying of hair OMIM:613990
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Fine hair OMIM:614091
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Absent nipple, Fine hair, Absen... OMIM:305100
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Argininosuccinic Aciduria
Dry hair, Trichorrhexis nodosa, Brittle hair OMIM:207900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Chops Syndrome
Curly hair, Synophrys, Long eyelashes, Coarse hair, Thick eyebrow, Thick hair OMIM:616368
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Sparse facial hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:250250
Cranioectodermal Dysplasia 3
Broad nail, Sparse hair, Short nail, Fine hair OMIM:614099
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow OMIM:610733
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair ORPHA:1812
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Synophrys, Long eyelashes, Hirsutism, Low posterior hairline, Low anterior hairline OMIM:617303
Noonan Syndrome 14
Sparse eyebrow, Curly hair, Sparse hair, Low posterior hairline OMIM:619745
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline OMIM:617360
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Brittle hair, Fine hair, Abnormal eyelash morphology, Low post... ORPHA:1340
Diamond-Blackfan Anemia 21
Synophrys, Horizontal eyebrow, Widow's peak, Coarse hair OMIM:620072
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Fine hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:612199
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Hallermann-Streiff Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Trisomy 20P
Coarse hair, Low posterior hairline, Thick eyebrow, Highly arched eyebrow, Low anterior hairline,... ORPHA:261318
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair OMIM:257850
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Hirsutism, Coarse hair OMIM:253220
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Spa... ORPHA:2710
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Trichohepatoenteric Syndrome 1
Curly hair, Trichorrhexis nodosa, Brittle hair, Fine hair, Woolly hair, Sparse hair OMIM:222470
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Mucopolysaccharidosis, Type Iiid
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Tiger tail banding, Sparse scalp hair, Brittle hair, Split nail,... ORPHA:33364
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Long eyelashes, Woolly hair, Thoracic hypertrichosis, Coarse hair, Hypopla... OMIM:618268
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Curly hair, Sparse lateral eyebrow, Coarse hair, Highly arched eyebrow, L... OMIM:617506
Eec Syndrome
Sparse eyebrow, Fine hair, Nail pits, Coarse hair, Thick eyebrow, Nail dystrophy, Slow-growing hair ORPHA:1896
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Onycholysis, Sparse eyelashes, Nail dystrophy OMIM:614748
Oculodentodigital Dysplasia
Dry hair, Fine hair, Fragile nails, Sparse hair, Slow-growing hair OMIM:164200
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Cardiofaciocutaneous Syndrome 1
Curly hair, Absent eyelashes, Absent eyebrow, Low posterior hairline, Sparse hair, Slow-growing hair OMIM:115150
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Syndromic Diarrhea
Trichorrhexis nodosa, Brittle hair, Woolly hair, Hypopigmentation of hair, Uncombable hair ORPHA:84064
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Ablepharon Macrostomia Syndrome
Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair pattern, Sparse hair, Breast hypoplasia ORPHA:920
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
Weaver Syndrome
Fine hair, Sparse hair, Deep-set nails, Thin nail OMIM:277590
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Low posterior hairline OMIM:605275
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Nicolaides-Baraitser Syndrome
Dry hair, Sparse scalp hair, Long eyelashes, Sparse medial eyebrow, Absent eyebrow, Low posterior... OMIM:601358
Hallermann-Streiff Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:234100
Opitz-Kaveggia Syndrome
Frontal upsweep of hair, Sparse hair, Fine hair OMIM:305450
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Sparse hair, Highly arched eyebrow, Low posterior hairline OMIM:613563
Dubowitz Syndrome
Hypoplastic toenails, Sparse scalp hair, Sparse lateral eyebrow, Fine hair, Abnormal fingernail m... ORPHA:235
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Breast aplasia, Fine hair, Sparse pubic hair, Nail dysplasia, Patchy alopec... OMIM:181270
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands ORPHA:73223
Noonan Syndrome
Low posterior hairline, Abnormal hair quantity, Coarse hair ORPHA:648
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Curly hair, Synophrys, Long eyelashes, Abnormal fingernail morphology, Abno... ORPHA:444077
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Mucopolysaccharidosis Type 3
Synophrys, Hirsutism, Coarse hair, Generalized hirsutism, Thick hair ORPHA:581
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Thin nail, Sparse hair, Slow-growing hair OMIM:218330
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Sparse hair, Coarse hair ORPHA:2750
Marshall-Smith Syndrome
Brittle hair, Synophrys, Highly arched eyebrow, Thick eyebrow, Sparse hair, Hypertrichosis OMIM:602535
Hajdu-Cheney Syndrome
Synophrys, Abnormal fingernail morphology, Coarse hair, Thick eyebrow, Generalized hirsutism, Low... ORPHA:955
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Orofaciodigital Syndrome I
Alopecia, Sparse hair, Dry hair OMIM:311200
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Sparse hair, Brittle hair OMIM:252500
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Cockayne Syndrome B
Abnormal hair morphology, Sparse hair, Dry hair OMIM:133540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Curly hair, Sparse lateral eyebrow, Long eyelashes, T... OMIM:619950
Fontaine Progeroid Syndrome
Sparse scalp hair, Small nail, Coarse hair, Synophrys, Absent nipple, Low posterior hairline, Hyp... OMIM:612289
Myhre Syndrome
Thick eyebrow, Sparse hair, Fine hair OMIM:139210
Distal Monosomy 12Q
Small nail, Fine hair ORPHA:96149
Costello Syndrome
Curly hair, Deep-set nails, Thin nail, Fragile nails, Concave nail, Sparse hair OMIM:218040
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Cockayne Syndrome A
Dry hair, Sparse hair OMIM:216400
Focal Dermal Hypoplasia
Brittle hair, Absent toenail, Absent fingernail, Supernumerary nipple, Ridged nail, Nail dysplasi... OMIM:305600
Zttk Syndrome
Broad eyebrow, Curly hair, Sparse eyebrow OMIM:617140
Occipital Horn Syndrome
Thick hair, Coarse hair ORPHA:198
Coffin-Siris Syndrome 1
Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Long eyelashes, Facial hypertrichosis, Hypopl... OMIM:135900
Renpenning Syndrome 1
Sparse lateral eyebrow, Sparse hair, Brittle hair OMIM:309500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Coffin-Lowry Syndrome
Thick eyebrow, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair OMIM:303600
Ogden Syndrome
Sparse eyebrow, Long eyelashes, Fine hair OMIM:300855
Cockayne Syndrome
Dry hair, Fine hair ORPHA:191
Neuroocular Syndrome
Small nail, Brittle hair, Synophrys, Long eyelashes, Distichiasis, Thick eyebrow, Highly arched e... OMIM:619539
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Fine hair ORPHA:534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebrow, Sparse scalp hair, Cur... OMIM:619503
Noonan Syndrome 1
Woolly hair, Low posterior hairline OMIM:163950
Witteveen-Kolk Syndrome
High anterior hairline, Medial flaring of the eyebrow, Fine hair, Hyperconvex nail, Fragile nails OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morpho... ORPHA:286
Alström Syndrome
Frontal balding, Hirsutism, Fine hair 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 Krt75

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 Krt75.

No publications found that use IMPC mice or data for Krt75.

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MGI Allele Allele Type Produced
Krt75em1(IMPC)Mbp Exon Deletion Mice, Tissue

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