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Gene: Padi3 MGI:1338891

Gene Summary

Name:

peptidyl arginine deiminase, type III

Synonyms:

Pdi3, PAD type III, Pad3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal auditory brainstem response	Padi3^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.33×10^-05
decreased lean body mass	Padi3^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.21×10^-05
increased total body fat amount	Padi3^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.71×10^-05
increased circulating HDL cholesterol level	Padi3^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.98×10^-05

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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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.

Human diseases associated with Padi3 (2 diseases)
Human diseases predicted to be associated with Padi3 (396 diseases)

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	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)	Padi3^{tm1a(KOMP)Wtsi}	PMC5142115

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MGI Allele	Allele Type	Produced
Padi3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Padi3^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Padi3^{tm119234(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Padi3^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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Gene: Padi3 MGI:1338891

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Immunophenotyping

Immunophenotyping

Human diseases caused by Padi3 mutations

Histopathology

IMPC related publications

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Access Data Release 17.0 Data