Gene Summary

Name:
peptidyl arginine deiminase, type III
Synonyms:
Pdi3,  PAD type III,  Pad3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Padi3tm1b(KOMP)Wtsi HOM   Early adult 6.33×10-05
decreased lean body mass Padi3tm1b(KOMP)Wtsi HOM Early adult 3.21×10-05
increased total body fat amount Padi3tm1b(KOMP)Wtsi HOM Early adult 1.71×10-05
increased circulating HDL cholesterol level Padi3tm1b(KOMP)Wtsi HOM   Early adult 9.98×10-05

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Padi3 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 Padi3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480

The table below shows human diseases predicted to be associated to Padi3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pili Gemini
Abnormal hair laboratory examination, Hair shafts flattened at irregular intervals and twisted th... ORPHA:79492
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Onychogryposis of toenails, Sparse hair, Dry hair, Coarse hair OMIM:164680
Pili Torti, Early-Onset
Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and twisted t... OMIM:261900
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Alope... OMIM:613573
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Monilethrix
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Amaurosis-Hypertrichosis Syndrome
Thick eyebrow, Abnormal eyelash morphology, Coarse hair, Synophrys ORPHA:1021
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Palmoplantar Keratoderma And Woolly Hair
Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Leukonychia, ... OMIM:616099
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypotrichosis 12
Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Sparse or absent eyelashes, Sparse hair, Dr... OMIM:615885
Carvajal Syndrome
Woolly hair ORPHA:65282
Bazex Syndrome
Coarse hair, Pili torti, Trichorrhexis nodosa, Trichoepithelioma, Sparse hair OMIM:301845
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Slow-growing hair OMIM:601453
Hypotrichosis 6
Brittle hair, Pili torti, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:607903
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail m... ORPHA:248
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Spinocerebellar Ataxia With Dysmorphism
Coarse hair OMIM:271270
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys OMIM:616351
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Dwarfism, Familial, With Muscle Spasms
Fine hair, Brittle scalp hair, Sparse scalp hair OMIM:600771
Abcd Syndrome
Abnormal auditory evoked potentials, Large for gestational age, Aganglionic megacolon, Hearing im... OMIM:600501
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hearing impairment, Hypercholester... OMIM:144300
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Thin toenail, Hypoplastic toenails, Fine hair, Ridged fingernail, Fragil... ORPHA:2228
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Nail dystrophy, Coarse hair, Alopecia ORPHA:75389
Peeling Skin Syndrome 1
Abnormality of hair texture, Brittle hair, Onycholysis OMIM:270300
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Nail dysplasia, Fine hair, Slow-growing hair, Sparse eyelashes, Sparse hair OMIM:129490
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Hall-Riggs Syndrome
Thick hair, Coarse hair, Slow-growing hair ORPHA:2107
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Nail dysplasia, Sparse eyebrow, Alopecia, Leukonychia, Sparse hair OMIM:104100
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Brittle scalp hair, Sparse scalp hair OMIM:262020
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Nail dysplasia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Alopecia OMIM:607655
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Naxos Disease
Abnormality of hair texture, Curly hair, Woolly hair, Sparse scalp hair ORPHA:34217
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys OMIM:252930
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Coarse hair, Low posterior hairline ORPHA:1912
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Sparse eyebrow, Curly hair, Sparse hair OMIM:602400
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Fine hair, Pili torti, Sparse scalp hair ORPHA:1573
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Nail dysplasia, Sparse eyebrow, Fine hair, Slow-grow... OMIM:129500
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Cardiofaciocutaneous Syndrome 2
Curly hair, Sparse hair, Fine hair, Absent eyebrow OMIM:615278
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Brittle hair, Coarse hair OMIM:219200
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eyebrow, Nai... ORPHA:2890
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Nail dysplasia, Sparse eyebrow, Abnormality of hair texture, Sparse eyelashes, Prog... OMIM:225060
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of the nail, Patchy alopecia, Coarse hair, Scarring alopecia of scalp, Abnormal hair ... ORPHA:35173
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Sparse hair, Trichorrhexis nodosa, Pili canaliculi, Uncombable hair OMIM:614602
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Chronic monilial nail infection, Nail dystrophy, Alopecia OMIM:158310
Incontinentia Pigmenti
Atrophic, patchy alopecia, Coarse hair, Supernumerary nipple, Nail dysplasia, Fine hair, Nail pit... OMIM:308300
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Pachyonychia Congenita 2
Nail dysplasia, Sparse eyebrow, Nail dystrophy, Sparse scalp hair, Dry hair, Subungual hyperkerat... OMIM:167210
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Abnormal hair pattern, Synophrys, Low posterior hairline ORPHA:1394
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Fine hair, Sparse scalp hair ORPHA:90368
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Synophrys, Hirsutism, Low posterior hairline OMIM:617303
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy, Reduced subcutaneou... OMIM:612526
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Coarse hair, Hyperconvex fingernails, Supernumerary nipple, Dystrophic toenail, Sparse eyebrow, S... ORPHA:1071
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Trichohepatoneurodevelopmental Syndrome
Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Hypertrichosis, Curly hair OMIM:618268
Popov-Chang syndrome
Coarse hair OMIM:618428
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Nail dysplasia, Trichorrhexis nodosa, Abnormality of hair ... OMIM:234050
Trisomy 20P
Coarse hair, Thick eyebrow, Highly arched eyebrow, Thick hair, Low anterior hairline, Low posteri... ORPHA:261318
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Onychotrichodysplasia And Neutropenia
Hypoplastic fingernail, Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Short eyelashes... OMIM:258360
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Mucopolysaccharidosis, Type Iiid
Coarse hair, Thick eyebrow, Synophrys, Facial hirsutism, Hirsutism OMIM:252940
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Hirsutism, Coarse hair OMIM:253220
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Uncombable hair, Pili canaliculi OMIM:191482
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Sparse hair, Coarse hair ORPHA:357074
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair ORPHA:181393
Sener Syndrome
Coarse hair OMIM:606156
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding OMIM:616943
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Fragile nails, Nail dystrophy OMIM:615821
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Woolly hair, Trichorrhexis nodosa OMIM:619691
Eec Syndrome
Coarse hair, Thick eyebrow, Sparse eyebrow, Fine hair, Slow-growing hair, Nail pits, Nail dystrophy ORPHA:1896
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Sparse lateral eyebrow, Slow-growing hair, Highly arched eyebrow, High anterior hair... OMIM:617506
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Long eyelashes in irregular rows, A... ORPHA:2963
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Odontoonychodermal Dysplasia
Dystrophic toenail, Nail dysplasia, Anonychia, Fine hair, Sparse eyebrow, Sparse body hair, Dystr... OMIM:257980
Cerebellofaciodental Syndrome
Sparse hair, Sparse eyebrow, Fine hair OMIM:616202
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Hereditary Mucoepithelial Dysplasia
Sparse hair, Fine hair, Alopecia ORPHA:1839
Weaver Syndrome
Hypoplastic toenails, Fine hair, Thin nail, Deep-set nails, Abnormal fingernail morphology ORPHA:3447
Acrogeria
Fine hair ORPHA:2500
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Fine hair, Hypoplastic nipples, Sparse eyelashes, Distichiasis, Absent axillar... OMIM:211370
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Fine hair, Onycholysis, Hypoplastic toenails ORPHA:1028
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Craniofrontonasal Dysplasia
Widow's peak, Woolly hair, Abnormality of hair texture, Ridged fingernail, Low posterior hairline ORPHA:1520
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Brittle hair, Slow-growing hair, Tiger tail banding OMIM:300953
Mucopolysaccharidosis Type 3
Generalized hirsutism, Coarse hair, Thick hair, Synophrys, Hirsutism ORPHA:581
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Noonan Syndrome
Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Hajdu-Cheney Syndrome
Generalized hirsutism, Coarse hair, Thick eyebrow, Low anterior hairline, Synophrys, Abnormal fin... ORPHA:955
Netherton Syndrome
Sparse scalp hair, Brittle hair, Sparse eyebrow, Brittle scalp hair OMIM:256500
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Orofaciodigital Syndrome Type 1
Sparse hair, Brittle hair, Coarse hair, Alopecia ORPHA:2750
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Arthrogryposis, Distal, Type 2A
Elbow flexion contracture, Small for gestational age, Hernia, Knee flexion contracture, Abnormal ... OMIM:193700
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Adult Syndrome
Abnormality of the nail, Absent nipple, Sparse scalp hair, Fine hair, Nail pits, Hypoplastic nipp... ORPHA:978
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissue, Increased facia... OMIM:151660
Leopard Syndrome 2
Curly hair OMIM:611554
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Uncombable hair ORPHA:3082
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Hypercholesterolemia, Contractures of the large jo... ORPHA:2457
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Spar... ORPHA:634
Trichodermodysplasia-Dental Alterations Syndrome
Brittle hair, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Fine hair, Sparse or abs... ORPHA:3353
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Thick eyebrow, Nail dysplasia, Curly eyelashes, Facial hirsutism, Cur... ORPHA:163654
Occipital Horn Syndrome
Coarse hair OMIM:304150
Menkes Disease
Sparse hair, Brittle hair, Alopecia OMIM:309400
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Synophrys OMIM:617412
Distal Trisomy 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Fontaine Progeroid Syndrome
Small nail, Coarse hair, Absent nipple, Sparse scalp hair, Anonychia, Hypoplastic nipples, Synoph... OMIM:612289
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Brittle hair, Dry hair, Nail dystrophy ORPHA:93947
Noonan Syndrome 6
Curly hair, Long eyebrows, Sparse hair, Low posterior hairline OMIM:613224
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... OMIM:182290
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Coffin-Lowry Syndrome
Coarse hair, Hyperconvex fingernails, Abnormal hair morphology, Thick eyebrow, Highly arched eyebrow OMIM:303600
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Sparse eyelashes, Curly hair, Alopecia of scalp OMIM:615280
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Rapp-Hodgkin Syndrome
Small nail, Fine hair, Onychogryposis, Decreased number of sweat glands, Pili canaliculi, Sparse ... OMIM:129400
Noonan Syndrome 5
Small nail, Curly hair, Sparse eyebrow, Fine hair OMIM:611553
Occipital Horn Syndrome
Thick hair, Coarse hair ORPHA:198
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia OMIM:608612
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Fine hair, Trichorrhexis nodosa, Nail dystrophy, Fragile na... OMIM:601675
Tonne-Kalscheuer Syndrome
Small nail, Fine hair OMIM:300978
Galactokinase Deficiency
Hypergalactosemia, Small for gestational age, Hypercholesterolemia, Sensorineural hearing impairm... ORPHA:79237
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529799
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Revesz Syndrome
Fine hair, Nail pits, Nail dystrophy, Ridged fingernail, Sparse hair OMIM:268130
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Woolly hair, Highly arched eyebrow, Broad eyebrow, Low anterior hairline, Hirsutism OMIM:619244
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair OMIM:617360
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Hypercholesterolemia, Adipose tissue loss, Failure to t... ORPHA:528
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Naxos Disease
Woolly hair, Sparse eyebrow, Sparse body hair, Onycholysis, Nail dystrophy, Curly hair OMIM:601214
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Supernumerary nipple, Nail dysplasia, Fine hair, Sparse or absent eyelash... ORPHA:217346
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Cartilage-Hair Hypoplasia
Fair hair, Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Thin eyebrow, Fine hair, Slow-growing hair, Thin nail, Leukonychia, Spars... OMIM:190350
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Trichothiodystrophy 3, Photosensitive
Brittle hair, Tiger tail banding, Trichorrhexis nodosa OMIM:616395
Intellectual Disability, Buenos-Aires Type
Hyperconvex thumb nails, Abnormal fingernail morphology, Fine hair ORPHA:3079
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Low anterior hairline, Fine hair, Synophrys ORPHA:391408
Costello Syndrome
Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Deep-set nails, Abnormal fingernail ... ORPHA:3071
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Increased circulating ferritin concent... ORPHA:3240
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Noonan Syndrome 8
Curly hair OMIM:615355
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow OMIM:618810
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Fine hair, Alopecia OMIM:613990
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Enamel hypoplasia, Hearing impairment, Increased b... ORPHA:90321
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Obesity, Small for gestational age, Hypercholesterolemia ORPHA:96184
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair, Sparse hair OMIM:614091
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Infantile Krabbe Disease
Decreased nerve conduction velocity, Failure to thrive, Prolonged brainstem auditory evoked poten... ORPHA:206436
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Argininosuccinic Aciduria
Brittle hair, Dry hair, Trichorrhexis nodosa OMIM:207900
Cranioectodermal Dysplasia 3
Broad nail, Short nail, Fine hair, Sparse hair OMIM:614099
Smith-Magenis Syndrome
EEG abnormality, Failure to thrive in infancy, Hypercholesterolemia, Conductive hearing impairmen... ORPHA:819
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Noonan Syndrome 4
Curly hair, Sparse eyebrow, High anterior hairline OMIM:610733
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Trisomy 10P
Low-set ears, Small for gestational age, Flexion contracture of thumb, EEG with burst suppression... ORPHA:171929
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Noonan Syndrome 14
Curly hair, Sparse hair, Sparse eyebrow, Low posterior hairline OMIM:619745
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol conce... ORPHA:412
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceri... OMIM:278000
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent nipple, Absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat glands, S... OMIM:305100
Scalp-Ear-Nipple Syndrome
Abnormality of the nail, Abnormal hair morphology, Nail dysplasia, Fine hair, Breast aplasia, Spa... OMIM:181270
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:1812
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, EEG abnormality, Hypercholesterolemia, Protruding ear ORPHA:2479
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Hallermann-Streiff Syndrome
Sparse eyebrow, Sparse body hair, Abnormality of hair texture, Sparse eyelashes, Alopecia, Sparse... ORPHA:2108
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Trichohepatoenteric Syndrome 1
Brittle hair, Woolly hair, Fine hair, Trichorrhexis nodosa, Curly hair, Sparse hair OMIM:222470
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Cockayne Syndrome B
Atypical scarring of skin, Small for gestational age, Sensorineural hearing impairment, Decreased... OMIM:133540
Cardiofaciocutaneous Syndrome
Brittle hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Fine hair, Slow-gro... ORPHA:1340
Cockayne Syndrome A
Atypical scarring of skin, Enamel hypoplasia, Sensorineural hearing impairment, Decreased nerve c... OMIM:216400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Oculodentodigital Dysplasia
Fine hair, Slow-growing hair, Fragile nails, Sparse hair, Dry hair OMIM:164200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Genitopatellar Syndrome
Fine hair, Sparse scalp hair ORPHA:85201
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair OMIM:257850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Abnormal auditory evoked potentials, Failure to thri... ORPHA:401973
Oculodentodigital Dysplasia
Abnormality of the nail, Brittle hair, Fine hair, Slow-growing hair, Curly hair, Sparse hair, Abn... ORPHA:2710
Trichothiodystrophy
Brittle hair, Aplasia/Hypoplasia of the nails, Split nail, Dystrophic fingernails, Sparse scalp h... ORPHA:33364
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Weaver Syndrome
Sparse hair, Deep-set nails, Fine hair, Thin nail OMIM:277590
Lipodystrophy, Familial Partial, Type 7
Tinnitus, Lipodystrophy, Orthostatic hypotension, Low-set ears, Hypercholesterolemia, Small for g... OMIM:606721
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Megalocornea-Mental Retardation Syndrome
Cupped ear, Large fleshy ears, Hypercholesterolemia OMIM:249310
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes ORPHA:261349
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Slow-growing hair, Absent eyebrow, Curly hair, Sparse hair, Low posterior hairline OMIM:115150
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Uncombable hair ORPHA:84064
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Ogden Syndrome
Sparse eyebrow, Fine hair, Long eyelashes OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hypertriglyceridemia, ... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hype... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypertriglyceridemia, Hype... ORPHA:370
Woodhouse-Sakati Syndrome
Sparse hair, Fine hair, Alopecia OMIM:241080
Ablepharon Macrostomia Syndrome
Absent eyelashes, Abnormal hair pattern, Fine hair, Absent eyebrow, Sparse hair, Breast hypoplasia ORPHA:920
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Long eyelashes, Loose anagen hair, Sparse scalp hair, Curly hair, Sparse hair OMIM:607721
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal ... ORPHA:90674
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline OMIM:605275
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614748
Noonan Syndrome 10
Curly hair, Sparse eyebrow OMIM:616564
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse hair OMIM:234100
Opitz-Kaveggia Syndrome
Sparse hair, Fine hair, Frontal upsweep of hair OMIM:305450
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Sparse hair, Fine hair OMIM:613563
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia, Papilledema OMIM:619471
Dubowitz Syndrome
Hypoplastic toenails, Sparse lateral eyebrow, Fine hair, Low anterior hairline, Sparse scalp hair... ORPHA:235
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Cranioectodermal Dysplasia 1
Fine hair, Slow-growing hair, Thin nail, Sparse hair, Short nail OMIM:218330
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Obesity, Overweight, Hyperuricemia, Hype... ORPHA:90041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Long eyelashes, Thick eyebrow, Abnormal toenail morphology, Highly arched e... ORPHA:444077
Mucolipidosis Type Ii
White hair, Dry hair, Fine hair ORPHA:576
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys ORPHA:73223
Focal Dermal Hypoplasia
Patchy alopecia, Brittle hair, Absent fingernail, Supernumerary nipple, Nail dysplasia, Nail dyst... OMIM:305600
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Failure to thrive, Hypertriglyceri... ORPHA:275761
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Marshall-Smith Syndrome
Brittle hair, Thick eyebrow, Highly arched eyebrow, Synophrys, Hypertrichosis, Sparse hair OMIM:602535
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Orofaciodigital Syndrome I
Sparse hair, Dry hair, Alopecia OMIM:311200
Immunodeficiency 47
Sensorineural hearing impairment, Failure to thrive, Decreased circulating copper concentration, ... OMIM:300972
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, EEG abnormality, Hyponatremia, Atypical scarring of skin, Hypercholesterolemia, Hypo... ORPHA:534
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Failure to thrive, Hypertriglyc... ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Enamel hypoplasia, Elevated amniotic fluid alpha-fetoprotei... OMIM:309000
Distal Monosomy 12Q
Small nail, Fine hair ORPHA:96149
Myhre Syndrome
Thick eyebrow, Sparse hair, Fine hair OMIM:139210
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Zttk Syndrome
Curly hair, Sparse eyebrow, Broad eyebrow OMIM:617140
Costello Syndrome
Thin nail, Deep-set nails, Fragile nails, Curly hair, Sparse hair, Concave nail OMIM:218040
Coffin-Siris Syndrome 1
Hypertrichosis, Long eyelashes, Thick eyebrow, Hypoplastic fifth fingernail, Anonychia, Lumbosacr... OMIM:135900
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Witteveen-Kolk Syndrome
Fine hair, High anterior hairline, Medial flaring of the eyebrow OMIM:613406
Alagille Syndrome 1
Failure to thrive, Macrotia, Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Cockayne Syndrome
Dry hair, Fine hair ORPHA:191
Neuroocular Syndrome
Small nail, Brittle hair, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Distichiasis, Syn... OMIM:619539
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Long eyelashes, Thick eyebrow, Thoracic hypertrichosis, Synophrys, Horizontal eyebrow, Sparse sca... OMIM:619503
Noonan Syndrome 1
Woolly hair, Low posterior hairline OMIM:163950
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Low-... OMIM:619534
Steinert Myotonic Dystrophy
Facial diplegia, Hypercholesterolemia ORPHA:273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Broad lateral eyebrow, Sparse eyebrow ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Curly hair, Hypertrichosis ORPHA:480880
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Vascular Ehlers-Danlos Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Alop... ORPHA:286
Alström Syndrome
Frontal balding, Fine hair, Hirsutism 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 Padi3

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 Padi3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. American journal of human genetics (November 2016) Padi3tm1a(KOMP)Wtsi PMC5142115

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MGI Allele Allele Type Produced
Padi3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Padi3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Padi3tm119234(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Padi3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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