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Gene: Padi3 MGI:1338891

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Padi3tm1b(KOMP)Wtsi HOM   Early adult 6.33×10-05
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
decreased lean body mass Padi3tm1b(KOMP)Wtsi HOM Early adult 3.21×10-05

Download data as:  TSV  XLS

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
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.

The table below shows human diseases associated to Padi3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair 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
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology 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
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
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... ORPHA:444
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair OMIM:234030
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... OMIM:194300
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Pili Torti, Early-Onset
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... OMIM:261900
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Bjornstad Syndrome
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... ORPHA:113
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy OMIM:158000
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... OMIM:613573
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Amaurosis-Hypertrichosis Syndrome
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair ORPHA:1021
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Carvajal Syndrome
Woolly hair ORPHA:65282
Hypotrichosis 12
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sparse hair, Brittle hair ORPHA:1883
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair ORPHA:202
Bazex Syndrome
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair OMIM:301845
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes OMIM:616099
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:211390
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... ORPHA:573
Hypotrichosis 7
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... OMIM:604379
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Trichodental Dysplasia
Slow-growing hair, Sparse hair, Fine hair, Brittle hair OMIM:601453
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair OMIM:607903
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Ectodermal Dysplasia 7, Hair/Nail Type
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... OMIM:614929
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... ORPHA:1433
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Erythrokeratodermia Variabilis Et Progressiva 7
Dystrophic toenail, Woolly hair OMIM:619209
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Curly hair, Coarse hair OMIM:616351
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... ORPHA:2228
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Nail dystrophy, Coarse hair ORPHA:75389
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair OMIM:129490
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Mucopolysaccharidosis, Type Iiib
Synophrys, Hirsutism, Coarse hair OMIM:252920
Mucopolysaccharidosis, Type Iiia
Synophrys, Hirsutism, Coarse hair OMIM:252900
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair OMIM:104100
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Coarse hair ORPHA:2107
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Ravine Syndrome
Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive ORPHA:99852
Mucopolysaccharidosis, Type Iiic
Synophrys, Hirsutism, Hypertrichosis, Coarse hair OMIM:252930
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair OMIM:262020
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair ORPHA:34217
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... ORPHA:90368
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Low posterior hairline, Coarse hair ORPHA:1912
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... OMIM:129500
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Sparse hair, Fine hair OMIM:615278
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coarse hair ORPHA:2095
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Scarring alopecia of scalp, Abnormality of the nail, Abnormal hair pattern, Patch... ORPHA:35173
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Brittle hair, Coarse hair OMIM:219200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... OMIM:225060
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Breast aplasia, Supernumerary nipple, Fine hair, Nail pits, ... OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Nail dysplasia, Coarse hair, Sparse hair, Nail dystrophy OMIM:158310
Cerebrofaciothoracic Dysplasia
Coarse hair, Synophrys, Abnormal hair pattern, Low posterior hairline, Thick eyebrow ORPHA:1394
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Multiple Sulfatase Deficiency
Thick eyebrow, Coarse hair ORPHA:585
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Generalized lipodystrophy, Hypercholesterolem... OMIM:612526
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Chops Syndrome
Curly hair, Synophrys, Long eyelashes, Coarse hair, Thick eyebrow, Thick hair OMIM:616368
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Synophrys, Long eyelashes, Hirsutism, Low posterior hairline, Low anterior hairline OMIM:617303
Skin Fragility-Woolly Hair Syndrome
Alopecia, Sparse eyebrow, Woolly hair, Sparse eyelashes, Nail dystrophy OMIM:607655
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic toenail, Sparse eyebrow, Supernumerary nipple, Hyperconvex nail, Hyperconvex fingernai... ORPHA:1071
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... OMIM:234050
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair ORPHA:50814
Trisomy 20P
Coarse hair, Low posterior hairline, Thick eyebrow, Highly arched eyebrow, Low anterior hairline,... ORPHA:261318
Diamond-Blackfan Anemia 21
Synophrys, Horizontal eyebrow, Widow's peak, Coarse hair OMIM:620072
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Abnormality of hair texture OMIM:601957
Schimke Immunoosseous Dysplasia
Fine hair, Coarse hair OMIM:242900
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair OMIM:612394
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Ankle fle... OMIM:617519
Onychotrichodysplasia And Neutropenia
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... OMIM:258360
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Hirsutism, Coarse hair OMIM:253220
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair OMIM:614602
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Mucopolysaccharidosis, Type Iiid
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Pachyonychia Congenita 2
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... OMIM:167210
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Long eyelashes, Woolly hair, Thoracic hypertrichosis, Coarse hair, Hypopla... OMIM:618268
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... OMIM:600501
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Curly hair, Sparse lateral eyebrow, Coarse hair, Highly arched eyebrow, L... OMIM:617506
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair OMIM:607812
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair OMIM:619691
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair OMIM:615821
Eec Syndrome
Sparse eyebrow, Fine hair, Nail pits, Coarse hair, Thick eyebrow, Nail dystrophy, Slow-growing hair ORPHA:1896
Progeroid Syndrome, Petty Type
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... ORPHA:2963
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Craniofrontonasal Dysplasia
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture ORPHA:1520
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Weaver Syndrome
Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail ORPHA:3447
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Acrogeria
Fine hair ORPHA:2500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Mucopolysaccharidosis Type 3
Synophrys, Hirsutism, Coarse hair, Generalized hirsutism, Thick hair ORPHA:581
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... OMIM:300953
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Noonan Syndrome
Low posterior hairline, Abnormal hair quantity, Coarse hair ORPHA:648
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Sparse hair, Coarse hair ORPHA:2750
Hajdu-Cheney Syndrome
Synophrys, Abnormal fingernail morphology, Coarse hair, Thick eyebrow, Generalized hirsutism, Low... ORPHA:955
Netherton Syndrome
Brittle scalp hair, Sparse scalp hair, Sparse eyebrow, Brittle hair OMIM:256500
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Increa... OMIM:151660
Mandibuloacral Dysplasia
Contractures of the large joints, Increased circulating free fatty acid level, Increased adipose ... ORPHA:2457
Adult Syndrome
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... ORPHA:978
Leopard Syndrome 2
Curly hair OMIM:611554
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Uncombable hair, Slow-growing hair ORPHA:3082
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Wrist flexion contracture, Hip contracture, Hernia, Joint contracture o... OMIM:193700
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Overw... OMIM:616222
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Abnormal hair morphology, Spa... ORPHA:634
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... OMIM:257980
Trichodermodysplasia-Dental Alterations Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Brittle hair, Fine ... ORPHA:3353
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Multiple rows of eyelashes, Nail dysplasia, Low posterior hairline, Curly eyelashes, ... ORPHA:163654
Fontaine Progeroid Syndrome
Sparse scalp hair, Small nail, Coarse hair, Synophrys, Absent nipple, Low posterior hairline, Hyp... OMIM:612289
Distal Trisomy 6P
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair ORPHA:1745
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Synophrys, Long eyelashes, Thick eyebrow, Highly arched eyebrow OMIM:617412
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Rapp-Hodgkin Syndrome
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... OMIM:129400
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Noonan Syndrome 6
Long eyebrows, Curly hair, Sparse hair, Low posterior hairline OMIM:613224
Cardiofaciocutaneous Syndrome 4
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Sparse hair OMIM:615280
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Occipital Horn Syndrome
Thick hair, Coarse hair ORPHA:198
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Trichothiodystrophy 1, Photosensitive
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Fine hair, Fragil... OMIM:601675
Galactokinase Deficiency
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Sma... ORPHA:79237
Noonan Syndrome 5
Fine hair, Small nail, Sparse eyebrow, Curly hair OMIM:611553
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... OMIM:182290
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... OMIM:605814
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Tonne-Kalscheuer Syndrome
Concave nail, Small nail, Fine hair OMIM:300978
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Ataxia-Oculomotor Apraxia 4
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:616267
Coffin-Lowry Syndrome
Thick eyebrow, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair OMIM:303600
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... OMIM:277460
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Congenital Generalized Lipodystrophy
Increased C-peptide level, Adipose tissue loss, Lipodystrophy, Failure to thrive, Hypercholestero... ORPHA:528
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Braddock-Carey Syndrome 1
Curly hair, Sparse hair OMIM:619980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Truncal obesity, Hypercholesterolemia, Hypertriglyceride... OMIM:615812
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Revesz Syndrome
Fine hair, Nail pits, Ridged fingernail, Sparse hair, Nail dystrophy OMIM:268130
Jaberi-Elahi Syndrome
Sparse eyebrow, Brittle hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:617988
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Woolly hair, Hirsutism, Highly arched eyebrow, Low anterior hairline OMIM:619244
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Curly hair, Sparse hair, Sparse eyebrow OMIM:620075
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Nail dysplasia, Sparse hair, Sparse or a... ORPHA:217346
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Leukonychia, Thin eyebrow, Fine hair, Thin nail, Concave nail, Sparse hai... OMIM:190350
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Subungual hyperkeratosis,... OMIM:601214
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Low anterior hairline, Fine hair ORPHA:391408
Costello Syndrome
Hypoplastic toenails, Deep-set nails, Woolly hair, Abnormal fingernail morphology, Concave nail, ... ORPHA:3071
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
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
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Cockayne Syndrome Type 1
Enamel hypoplasia, Foot joint contracture, Macrotia, Abnormality of peripheral nerve conduction, ... ORPHA:90321
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Flexion contracture, Calcinosis, Reduced subcutaneous adipose ti... OMIM:248370
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Hypercholesterolemia, Truncal obesity ORPHA:96184
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Nail dysplasia, Fine hair, Premature graying of hair OMIM:613990
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Absent nipple, Fine hair, Absen... OMIM:305100
Smith-Magenis Syndrome
Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia, Obesi... ORPHA:819
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Infantile Krabbe Disease
Optic atrophy, Cachexia, Failure to thrive, Decreased nerve conduction velocity, Prolonged brains... ORPHA:206436
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Fine hair OMIM:614091
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Sensorineural hearing impairment, Abnormality of somatosensory evoked potent... ORPHA:99027
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Sparse facial hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:250250
Argininosuccinic Aciduria
Dry hair, Trichorrhexis nodosa, Brittle hair OMIM:207900
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow OMIM:610733
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, Fl... ORPHA:101085
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Lysosomal Acid Lipase Deficiency
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:278000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair ORPHA:1812
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Noonan Syndrome 14
Sparse eyebrow, Curly hair, Sparse hair, Low posterior hairline OMIM:619745
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline OMIM:617360
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Cranioectodermal Dysplasia 3
Broad nail, Sparse hair, Short nail, Fine hair OMIM:614099
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Brittle hair, Fine hair, Abnormal eyelash morphology, Low post... ORPHA:1340
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia ORPHA:2479
Hallermann-Streiff Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Small for gestational age, Abnormal auditory evo... OMIM:133540
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Cockayne Syndrome A
Enamel hypoplasia, Sensorineural hearing impairment, Hip contracture, Optic atrophy, Abnormal aud... OMIM:216400
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Fine hair, Nail dysplasia, Sparse hair, Nail dystrophy OMIM:612199
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Spa... ORPHA:2710
Trichohepatoenteric Syndrome 1
Curly hair, Trichorrhexis nodosa, Brittle hair, Fine hair, Woolly hair, Sparse hair OMIM:222470
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair OMIM:257850
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Failure to thrive, Elevated 8-deh... ORPHA:401973
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Tiger tail banding, Sparse scalp hair, Brittle hair, Split nail,... ORPHA:33364
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Small for gestational age, Reduced subcutaneous adipose tissue, Decreased a... OMIM:606721
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, Cupped ear, Hypercholesterolemia OMIM:249310
Cardiofaciocutaneous Syndrome 1
Curly hair, Absent eyelashes, Absent eyebrow, Low posterior hairline, Sparse hair, Slow-growing hair OMIM:115150
Oculodentodigital Dysplasia
Dry hair, Fine hair, Fragile nails, Sparse hair, Slow-growing hair OMIM:164200
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Syndromic Diarrhea
Trichorrhexis nodosa, Brittle hair, Woolly hair, Hypopigmentation of hair, Uncombable hair ORPHA:84064
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia, I... ORPHA:79240
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:370
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
Weaver Syndrome
Fine hair, Sparse hair, Deep-set nails, Thin nail OMIM:277590
Ablepharon Macrostomia Syndrome
Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair pattern, Sparse hair, Breast hypoplasia ORPHA:920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hypoplastic nipples, Sparse hair, Fine hair OMIM:280000
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Onycholysis, Sparse eyelashes, Nail dystrophy OMIM:614748
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Low posterior hairline OMIM:605275
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... ORPHA:90674
Nicolaides-Baraitser Syndrome
Dry hair, Sparse scalp hair, Long eyelashes, Sparse medial eyebrow, Absent eyebrow, Low posterior... OMIM:601358
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Hallermann-Streiff Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:234100
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Opitz-Kaveggia Syndrome
Frontal upsweep of hair, Sparse hair, Fine hair OMIM:305450
Dubowitz Syndrome
Hypoplastic toenails, Sparse scalp hair, Sparse lateral eyebrow, Fine hair, Abnormal fingernail m... ORPHA:235
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Sparse hair, Highly arched eyebrow, Low posterior hairline OMIM:613563
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Breast aplasia, Fine hair, Sparse pubic hair, Nail dysplasia, Patchy alopec... OMIM:181270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Bardet-Biedl Syndrome 20
Papilledema, Obesity, Hypercholesterolemia OMIM:619471
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands ORPHA:73223
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthe... ORPHA:275761
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Curly hair, Synophrys, Long eyelashes, Abnormal fingernail morphology, Abno... ORPHA:444077
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Failure to thrive, Increased LD... ORPHA:470
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Overweight, Hypercholeste... ORPHA:90041
Immunodeficiency 47
Failure to thrive, Sensorineural hearing impairment, Decreased circulating copper concentration, ... OMIM:300972
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Marshall-Smith Syndrome
Brittle hair, Synophrys, Highly arched eyebrow, Thick eyebrow, Sparse hair, Hypertrichosis OMIM:602535
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Thin nail, Sparse hair, Slow-growing hair OMIM:218330
Orofaciodigital Syndrome I
Alopecia, Sparse hair, Dry hair OMIM:311200
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, EEG abnormality, Hypophosphatemia, Hypokalemia, Protrud... ORPHA:534
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Sparse hair, Brittle hair OMIM:252500
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... OMIM:309000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Curly hair, Sparse lateral eyebrow, Long eyelashes, T... OMIM:619950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... ORPHA:79259
Myhre Syndrome
Thick eyebrow, Sparse hair, Fine hair OMIM:139210
Costello Syndrome
Curly hair, Deep-set nails, Thin nail, Fragile nails, Concave nail, Sparse hair OMIM:218040
Distal Monosomy 12Q
Small nail, Fine hair ORPHA:96149
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Zttk Syndrome
Broad eyebrow, Curly hair, Sparse eyebrow OMIM:617140
Focal Dermal Hypoplasia
Brittle hair, Absent toenail, Absent fingernail, Supernumerary nipple, Ridged nail, Nail dysplasi... OMIM:305600
Coffin-Siris Syndrome 1
Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Long eyelashes, Facial hypertrichosis, Hypopl... OMIM:135900
Alagille Syndrome 1
Macrotia, Failure to thrive, Hypercholesterolemia, Low-set ears, Hypertriglyceridemia OMIM:118450
Renpenning Syndrome 1
Sparse lateral eyebrow, Sparse hair, Brittle hair OMIM:309500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Ogden Syndrome
Sparse eyebrow, Long eyelashes, Fine hair OMIM:300855
Cockayne Syndrome
Dry hair, Fine hair ORPHA:191
Neuroocular Syndrome
Small nail, Brittle hair, Synophrys, Long eyelashes, Distichiasis, Thick eyebrow, Highly arched e... OMIM:619539
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Sparse scalp hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebrow, Sparse scalp hair, Cur... OMIM:619503
Noonan Syndrome 1
Woolly hair, Low posterior hairline OMIM:163950
Steinert Myotonic Dystrophy
Facial diplegia, Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Inguinal hernia, Failure to th... OMIM:619534
Witteveen-Kolk Syndrome
High anterior hairline, Medial flaring of the eyebrow, Fine hair, Hyperconvex nail, Fragile nails OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia ORPHA:391665
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morpho... ORPHA:286
Alström Syndrome
Frontal balding, Hirsutism, Fine hair ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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
Padi3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Padi3tm119234(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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