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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
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
decreased lean body mass	Padi3^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.21×10^-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

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B 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 (411 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		Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly 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 hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
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 scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	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	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	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	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Carvajal Syndrome	Woolly hair	ORPHA:65282
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
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	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl	ORPHA:168
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Nail Disorder, Nonsyndromic Congenital, 3	Abnormal hair morphology, Leukonychia, Concave nail	OMIM:151600
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Brittle hair, Abnormality of hair texture	OMIM:219200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight	ORPHA:99852
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Macrocephaly/Autism Syndrome	Coarse hair	OMIM:605309
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism	OMIM:617303
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow	OMIM:616368
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Diamond-Blackfan Anemia 21	Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak	OMIM:620072
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair	OMIM:242900
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Mucopolysaccharidosis, Type Iiid	Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow	OMIM:252940
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy...	OMIM:618268
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Mucopolysaccharidosis, Type Vii	Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Woolly hair, Fragile nails, Nail dystrophy, Leukonychia	OMIM:615821
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Thick eyebrow	ORPHA:1896
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair	ORPHA:3447
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Acrogeria	Fine hair	ORPHA:2500
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Mucopolysaccharidosis Type 3	Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism	ORPHA:581
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Low posterior hairline	ORPHA:648
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut...	ORPHA:955
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit...	ORPHA:978
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Leopard Syndrome 2	Curly hair	OMIM:611554
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Overweight, Flexion co...	OMIM:616222
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul...	OMIM:193700
Occipital Horn Syndrome	Coarse hair, Pili torti	OMIM:304150
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor...	ORPHA:634
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Melnick-Needles Syndrome	Coarse hair, Frontal hirsutism	OMIM:309350
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars...	OMIM:612289
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the...	ORPHA:3353
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity	ORPHA:1745
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair	OMIM:256500
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ...	ORPHA:52368
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T...	OMIM:601675
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Galactokinase Deficiency	Small for gestational age, Sensorineural hearing impairment, Increased level of galactitol in pla...	ORPHA:79237
Tonne-Kalscheuer Syndrome	Concave nail, Small nail, Fine hair	OMIM:300978
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Noonan Syndrome 5	Sparse eyebrow, Curly hair, Small nail, Fine hair	OMIM:611553
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, EEG abnormality, Hypercholesterolemia, Hearing impai...	OMIM:182290
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529808
Coffin-Lowry Syndrome	Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow	OMIM:303600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Leopard Syndrome 3	Curly hair, Low posterior hairline	OMIM:613707
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Failure to thrive...	ORPHA:528
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair	ORPHA:83617
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Naxos Disease	Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Hypoplast...	ORPHA:3071
Noonan Syndrome 8	Curly hair	OMIM:615355
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Optic a...	ORPHA:90321
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Obesity, Hyperuricemia	ORPHA:77296
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Increased circulating ferritin concent...	ORPHA:3240
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Truncal obesity, Small for gestational age, Obesity, Hypercholesterolemia	ORPHA:96184
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Obesity, EEG abnormality, Conductive hearing ...	ORPHA:819
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li...	OMIM:248370
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Fine hair	OMIM:614800
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline	OMIM:610733
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair	OMIM:236200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline	OMIM:617360
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair	ORPHA:1812
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, 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 creatine kinase concentration, Elevat...	ORPHA:64753
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Short nail, Fine hair	OMIM:614099
Trisomy 10P	Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit...	ORPHA:171929
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Megalocornea-Intellectual Disability Syndrome	EEG abnormality, Sensorineural hearing impairment, Hypercholesterolemia, Protruding ear	ORPHA:2479
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ...	ORPHA:1340
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Small for gestational age, Abnormal pinna morphology, Abnorm...	OMIM:133540
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Abnormal pinna morphology, Abnormal auditor...	OMIM:216400
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo...	OMIM:304110
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha...	ORPHA:2710
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Mend Syndrome	Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo...	ORPHA:401973
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Koolen-De Vries Syndrome	Fair hair, Abnormality of hair texture	OMIM:610443
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Tiger tail banding, Alope...	ORPHA:33364
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair	ORPHA:261349
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy...	OMIM:606721
Neuhauser Syndrome	Large fleshy ears, Hypercholesterolemia, Cupped ear	OMIM:249310
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair	OMIM:115150
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa	ORPHA:84064
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:2637
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Obesity	ORPHA:69663
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Elevated circulating creatine ...	ORPHA:79240
Chand Syndrome	Curly hair, Nail dysplasia	ORPHA:1401
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair	OMIM:607721
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypercholesterolemia, Umbilical hernia, Abnormal circulating thyroglobulin lev...	ORPHA:90674
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Noonan Syndrome 2	Sparse eyebrow, Curly hair, Low posterior hairline	OMIM:605275
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:234100
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ...	OMIM:601358
Noonan Syndrome 10	Sparse eyebrow, Curly hair	OMIM:616564
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F...	ORPHA:235
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia, Obesity	OMIM:619471
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture	ORPHA:73223
Mucolipidosis Type Ii	Dry hair, White hair, Fine hair	ORPHA:576
Immunodeficiency 47	Hypercholesterolemia, Sensorineural hearing impairment, Failure to thrive, Decreased circulating ...	OMIM:300972
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis	OMIM:602535
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Hyponatremia, Inguinal hernia, Hypercholesterolemia, Abnormal ...	ORPHA:534
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair	OMIM:252500
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow	OMIM:280000
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture	ORPHA:667
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th...	OMIM:619950
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine k...	OMIM:309000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t...	ORPHA:79259
Distal Deletion 12Q	Small nail, Fine hair	ORPHA:96149
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Cockayne Syndrome Type 3	Premature graying of hair, Dry hair	ORPHA:90324
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,...	OMIM:135900
Alagille Syndrome 1	Failure to thrive, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia, Macrotia	OMIM:118450
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Ogden Syndrome	Sparse eyebrow, Long eyelashes, Fine hair	OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e...	OMIM:619539
Cockayne Syndrome	Dry hair, Fine hair	ORPHA:191
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Long eyel...	OMIM:619503
Noonan Syndrome 1	Woolly hair, Low posterior hairline	OMIM:163950
Steinert Myotonic Dystrophy	Facial diplegia, Hypercholesterolemia	ORPHA:273
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails	OMIM:613406
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele...	OMIM:619534
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Curly hair, Broad lateral eyebrow	ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Hypoplastic nipples, Hypertrichosis	ORPHA:480880
Liver Disease, Severe Congenital	Dry hair, Nail dystrophy	OMIM:619991
Vascular Ehlers-Danlos Syndrome	Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex...	ORPHA:286
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
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)	Padi3^{tm1a(KOMP)Wtsi}	PMC5142115

Order Mouse and ES Cells

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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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Padi3 MGI:1338891

Gene Summary

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lacZ Expression

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