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Gene: Liph MGI:2388029

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

lipase, member H

Synonyms:

C130037N08Rik, PLA1B, mPA-PLA1, D16Wsu119e, Lpdlr, LPDLR

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Liph 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 Liph (3 diseases)
Human diseases predicted to be associated with Liph (314 diseases)

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

Disease	Matching phenotypes	Source
Hypotrichosis 7	Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:604379
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654

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

Disease	Matching phenotypes	Source
Uncombable Hair Syndrome 3	Curly hair, Pili canaliculi, Uncombable hair	OMIM:617252
Pseudopili Annulati	Abnormality of the scalp hair, Abnormality of hair texture	OMIM:613241
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Tented Eyebrows	Abnormal hair morphology	OMIM:611426
Ringed Hair	Abnormal hair morphology	OMIM:180600
Woolly Hair, Autosomal Recessive 3	Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair	OMIM:616760
Occipital Hair, White Lock Of	White hair, Abnormal hair morphology	OMIM:310900
Hypotrichosis 13	Sparse and thin eyebrow, Sparse hair, Woolly hair	OMIM:615896
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Witkop Syndrome	Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits	OMIM:189500
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Hypotrichosis 7	Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:604379
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia	ORPHA:1410
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes	OMIM:609227
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te...	ORPHA:2891
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S...	ORPHA:3361
Angioma Serpiginosum, X-Linked	Fine hair, Nail dystrophy, Sparse hair	OMIM:300652
Pili Torti	Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn...	ORPHA:2889
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
Cardiofaciocutaneous Syndrome 2	Fine hair, Curly hair, Sparse hair, Absent eyebrow	OMIM:615278
Woolly Hair, Autosomal Dominant	Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair	OMIM:194300
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na...	OMIM:602032
Monilethrix	Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair	OMIM:158000
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Alopecia, Woolly scalp hair, Woolly hair	OMIM:601217
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Ichthyosis, Congenital, Autosomal Recessive 11	Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair	OMIM:602400
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair	OMIM:234030
Palmoplantar Keratoderma And Woolly Hair	Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc...	OMIM:616099
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th...	ORPHA:42665
Carvajal Syndrome	Woolly hair	ORPHA:65282
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia...	OMIM:614929
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega...	OMIM:214450
Hypotrichosis 8	Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,...	OMIM:278150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ...	OMIM:190360
Crandall Syndrome	Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:202
Monilethrix	Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,...	ORPHA:573
Hypotrichosis 12	Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars...	OMIM:615885
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Dilution, Pigmentary	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	OMIM:126070
Hidrotic Ectodermal Dysplasia	Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A...	ORPHA:189
Copper Deficiency, Familial Benign	Early balding, Curly hair	OMIM:121270
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Trichodental Dysplasia	Fine hair, Brittle hair, Sparse hair, Slow-growing hair	OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m...	ORPHA:248
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair	OMIM:164680
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:261900
Hypotrichosis 6	Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair	OMIM:607903
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair	OMIM:211390
Waardenburg Syndrome, Type 2B	White forelock, Heterochromia iridis, Premature graying of hair	OMIM:600193
Dwarfism, Familial, With Muscle Spasms	Fine hair, Sparse scalp hair, Brittle scalp hair	OMIM:600771
Choroidal Atrophy-Alopecia Syndrome	Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar...	ORPHA:1433
Leopard Syndrome 2	Curly hair, Multiple lentigines, Cafe-au-lait spot	OMIM:611554
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism	OMIM:606952
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con...	OMIM:258360
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Hypodontia-Dysplasia Of Nails Syndrome	Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas...	ORPHA:2228
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism	OMIM:606574
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Freckling, Brittle hair, Melanocytic nevus, Pili torti, Sparse scalp hair	ORPHA:1573
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Coarse hair, Synophrys	OMIM:616351
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Abnormality of hair texture	OMIM:270300
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Brittle hair, Coarse hair	OMIM:616390
Ectodermal Dysplasia-Syndactyly Syndrome 1	Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ...	OMIM:613573
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654
Bazex-Dupré-Christol Syndrome	Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe...	ORPHA:113
Palmoplantar Keratoderma And Congenital Alopecia 1	Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentation of the skin, Nail dysplasia, Leukonychi...	OMIM:104100
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair	OMIM:129490
Pilodental Dysplasia With Refractive Errors	Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnormality of the nail, Sparse sc...	OMIM:262020
Noonan Syndrome 6	Curly hair, Multiple lentigines, Low posterior hairline, Sparse hair, Long eyebrows, Cafe-au-lait...	OMIM:613224
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc...	ORPHA:1882
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Noonan Syndrome 9	Curly hair, Sparse eyebrow	OMIM:616559
Leopard Syndrome 3	Low posterior hairline, Curly hair, Multiple lentigines, Few cafe-au-lait spots	OMIM:613707
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Noonan Syndrome 5	Fine hair, Small nail, Sparse eyebrow, Curly hair, Multiple lentigines, Cafe-au-lait spot	OMIM:611553
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Curly eyelashes, Curly hair, Nail dysplasia, Thick eyebrow, Low poste...	ORPHA:163654
Clouston Syndrome	Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr...	OMIM:129500
Skin Fragility-Woolly Hair Syndrome	Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow	OMIM:607655
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair	OMIM:617360
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega...	OMIM:607624
Ermine Phenotype	White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow	OMIM:227010
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Sparse hair, Uncombable hair	ORPHA:1264
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp...	OMIM:225060
Amaurosis-Hypertrichosis Syndrome	Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys	ORPHA:1021
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro...	ORPHA:2890
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair	OMIM:616395
Noonan Syndrome 8	Curly hair, Hyperpigmentation of the skin	OMIM:615355
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Blue irides, White eyelashes, White forelock, Heterochromia iridis, W...	OMIM:613265
Trichohepatoenteric Syndrome 2	Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi	OMIM:614602
Bazex Syndrome	Hyperpigmentation of the skin, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Tricho...	OMIM:301845
Smith-Kingsmore Syndrome	Curly hair, Cafe-au-lait spot	OMIM:616638
Pachyonychia Congenita 2	Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar...	OMIM:167210
Naxos Disease	Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Sparse body hair	OMIM:601214
Cataract, Aberrant Oral Frenula, And Growth Retardation	Curly hair	OMIM:115645
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance	Coarse hair	OMIM:248010
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture	OMIM:601957
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Curly hair, Cafe-au-lait spot	ORPHA:457485
Hypotrichosis Simplex Of The Scalp	Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair	ORPHA:90368
Noonan Syndrome 7	Low posterior hairline, Curly hair	OMIM:613706
Waardenburg Syndrome Type 2	Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema...	ORPHA:895
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Albinism	ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig...	ORPHA:2885
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Waardenburg Syndrome, Type 2A	Partial albinism, Albinism, White eyelashes, White forelock, Heterochromia iridis, White eyebrow,...	OMIM:193510
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Coarse hair, Sparse hair	ORPHA:1883
Elejalde Disease	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega...	OMIM:256710
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Woolly hair	OMIM:605676
Acquired Hypertrichosis Lanuginosa	Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology	ORPHA:2221
Noonan Syndrome 4	High anterior hairline, Curly hair, Sparse eyebrow, Blue irides	OMIM:610733
Trichothiodystrophy 4, Nonphotosensitive	Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na...	OMIM:234050
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentat...	OMIM:203200
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly	Pili canaliculi, Uncombable hair	OMIM:191482
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Growth Hormone Insensitivity Syndrome	Fine hair, Abnormality of the nail	ORPHA:181393
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Brittle hair, Alopecia, Hyperpigmentation of the skin	ORPHA:50812
Oculocutaneous Albinism Type 3	Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme...	ORPHA:79433
Trichohepatoneurodevelopmental Syndrome	Hypoplastic nipples, Hypertrichosis, Coarse hair, Curly hair, Woolly hair, Synophrys	OMIM:618268
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Fine hair, Sparse scalp hair	ORPHA:2324
Acrogeria	Fine hair, Irregular hyperpigmentation	ORPHA:2500
Trichothiodystrophy 6, Nonphotosensitive	Slow-growing hair, Brittle hair, Tiger tail banding	OMIM:616943
Cerebellofaciodental Syndrome	Fine hair, Sparse and thin eyebrow, Sparse hair	OMIM:616202
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Nail dystrophy, Fragile nails, Leukonychia, Woolly hair	OMIM:615821
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Spinocerebellar Ataxia With Dysmorphism	Coarse hair	OMIM:271270
Trichohepatoenteric Syndrome 1	Fine hair, Brittle hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Sparse hair	OMIM:222470
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Progeroid Syndrome, Petty Type	Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali...	ORPHA:2963
Hereditary Mucoepithelial Dysplasia	Fine hair, Alopecia, Sparse hair	ORPHA:1839
Rodrigues Blindness	Fine hair, Sparse hair	OMIM:268320
Noonan Syndrome 10	Curly hair, Hyperpigmentation of the skin, Sparse eyebrow, Cafe-au-lait spot	OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Curly hair, Multiple lentigines...	OMIM:607721
Chand Syndrome	Curly hair, Nail dysplasia	ORPHA:1401
Weaver Syndrome	Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology	ORPHA:3447
Noonan Syndrome 2	Hyperpigmentation of the skin, Sparse eyebrow, Curly hair, Low posterior hairline, Cafe-au-lait spot	OMIM:605275
Cardiofaciocutaneous Syndrome 1	Hyperpigmentation of the skin, Absent eyebrow, Absent eyelashes, Curly hair, Multiple lentigines,...	OMIM:115150
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A...	OMIM:211370
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails	ORPHA:1028
Oculodentodigital Dysplasia	Fine hair, Brittle hair, Curly hair, Abnormality of the nail, Slow-growing hair, Abnormal fingern...	ORPHA:2710
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Fine hair, Long eyelashes, High anterior hairline	ORPHA:231137
Odontoonychodermal Dysplasia	Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h...	OMIM:257980
Mucopolysaccharidosis, Type Iiia	Coarse hair, Hirsutism, Synophrys	OMIM:252900
Piebald Trait	Partial albinism, Piebaldism, White forelock, Heterochromia iridis, Absent pigmentation of the ve...	OMIM:172800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Freckling, Sparse lateral eyebrow, Coarse hair, Curly hair, Slow-growing h...	OMIM:617506
Giant Axonal Neuropathy	Pili canaliculi, Woolly hair	ORPHA:643
Craniofrontonasal Dysplasia	Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak	ORPHA:1520
Trichothiodystrophy 5, Nonphotosensitive	Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding	OMIM:300953
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Adult Syndrome	Fine hair, Hypoplastic nipples, Fingernail dysplasia, Freckling, Alopecia, Sparse scalp hair, Mel...	ORPHA:978
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t...	ORPHA:79435
Piebaldism	Hypopigmented skin patches, Piebaldism, White eyelashes, White forelock, Heterochromia iridis, Hy...	ORPHA:2884
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Brittle hair, Alopecia, Coarse hair	ORPHA:75389
Netherton Syndrome	Sparse and thin eyebrow, Brittle hair, Brittle scalp hair, Sparse scalp hair	OMIM:256500
Trichodermodysplasia-Dental Alterations Syndrome	Fine hair, Sparse lateral eyebrow, Brittle hair, Sparse or absent eyelashes, Multiple cafe-au-lai...	ORPHA:3353
Netherton Syndrome	Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, I...	ORPHA:634
Trichothiodystrophy 1, Photosensitive	Fine hair, Tiger tail banding, Small nail, Freckling, Brittle hair, Nail dystrophy, Trichorrhexis...	OMIM:601675
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology, Uncombable hair	ORPHA:3082
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hirsutism, Synophrys	OMIM:252920
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Fine hair, Thick eyebrow	OMIM:614800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry...	OMIM:601375
Distal Trisomy 6P	Fine hair, Abnormal eyelash morphology, Abnormal hair quantity	ORPHA:1745
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys	OMIM:617412
Hall-Riggs Syndrome	Slow-growing hair, Coarse hair, Thick hair	ORPHA:2107
2Q32Q33 Microdeletion Syndrome	Fine hair, Sparse hair	ORPHA:251019
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Nail dystrophy, Brittle hair, Dry hair	ORPHA:93947
Revesz Syndrome	Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Ridged fingernail, Sparse hair, Na...	OMIM:268130
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Sparse hair	OMIM:118650
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Alopecia, Abnormality of hair texture, Sparse hair, Mottled pigmentation	OMIM:608612
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Coarse hair, Abnormality of hair texture	OMIM:219200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Long eyelashes, Curly hair, Abnormal toenail morphology, Thick hair, Thick...	ORPHA:444077
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hirsutism, Synophrys	OMIM:252930
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Sparse hair	OMIM:614438
Fetal Hydantoin Syndrome	Low posterior hairline, Coarse hair, Hypoplastic fingernail	ORPHA:1912
Ectodermal Dysplasia-Blindness Syndrome	Fine hair, Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation	ORPHA:1806
Mucopolysaccharidosis, Type Iiid	Thick eyebrow, Coarse hair, Hirsutism, Synophrys	OMIM:252940
Oculocutaneous Albinism	Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ...	ORPHA:55
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Albinism, Melanocyt...	ORPHA:79434
Tonne-Kalscheuer Syndrome	Fine hair, Small nail	OMIM:300978
Rapp-Hodgkin Syndrome	Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp...	OMIM:129400
Carney Complex, Type 1	Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair	OMIM:160980
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Cartilage-Hair Hypoplasia	Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair	OMIM:250250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Fine hair, Sparse hair	OMIM:616817
19Q13.11 Microdeletion Syndrome	Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Super...	ORPHA:217346
Dyskeratosis Congenita, Autosomal Dominant 3	Fine hair, Alopecia, Nail dysplasia, Reticulated skin pigmentation, Premature graying of hair	OMIM:613990
Oculocutaneous Albinism Type 2	Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ...	ORPHA:79432
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Generalized hirsutism, Low anterior hairline	ORPHA:2095
Zttk Syndrome	Broad eyebrow, Curly hair, Sparse eyebrow	OMIM:617140
Costello Syndrome	Thin nail, Hyperpigmentation of the skin, Deep-set nails, Curly hair, Fragile nails, Concave nail...	OMIM:218040
Incontinentia Pigmenti	Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Abnormality ...	OMIM:308300
Intellectual Disability, Buenos-Aires Type	Fine hair, Abnormal fingernail morphology, Hyperconvex thumb nails	ORPHA:3079
Costello Syndrome	Hypoplastic toenails, Abnormal hair morphology, Generalized hyperpigmentation, Deep-set nails, Wo...	ORPHA:3071
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alopecia of scalp,...	ORPHA:35173
Trichorhinophalangeal Syndrome, Type I	Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Leukonychia, Conca...	OMIM:190350
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Mucoepithelial Dysplasia, Hereditary	Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia	OMIM:158310
Oculocutaneous Albinism Type 1A	Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi...	ORPHA:79431
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow	OMIM:618810
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Fine hair, White hair	ORPHA:935
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Fine hair, Sparse hair, Low anterior hairline, Synophrys	ORPHA:391408
Albinism, Oculocutaneous, Type Ia	Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of...	OMIM:203100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Alopecia	ORPHA:228390
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Synophrys	OMIM:619428
Cerebrofaciothoracic Dysplasia	Coarse hair, Abnormal hair pattern, Thick eyebrow, Low posterior hairline, Synophrys	ORPHA:1394
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Coar...	ORPHA:1071
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow	ORPHA:585
Schimke Immunoosseous Dysplasia	Fine hair, Coarse hair, Hypermelanotic macule	OMIM:242900
Craniolenticulosutural Dysplasia	Abnormality of skin pigmentation, Brittle hair, Hyperpigmentation of the skin, Coarse hair, Spars...	ORPHA:50814
Ogden Syndrome	Fine hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nail dysplasia	OMIM:614091
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Mongolian blue spot, Dry hair, Low anterior hairline	OMIM:618569
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Argininosuccinic Aciduria	Brittle hair, Dry hair, Trichorrhexis nodosa	OMIM:207900
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Coarse hair	OMIM:612394
Cranioectodermal Dysplasia 3	Fine hair, Broad nail, Short nail, Sparse hair	OMIM:614099
Popov-Chang syndrome	Coarse hair	OMIM:618428
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hirsutism, Thoracic hypertrichosis, Long eyelashes, Horizontal eyebrow, Curly hair, Thick eyebrow...	OMIM:619503
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Hypertrichosis, Hypoplastic nipples, Depigmentation/hyperpigmentation of skin	ORPHA:480880
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Low posterior hairline, Synophrys	OMIM:617303
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h...	OMIM:305100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Curly hair, Sparse eyebrow	ORPHA:500150
Scalp-Ear-Nipple Syndrome	Fine hair, Abnormal hair morphology, Nail dysplasia, Abnormality of the nail, Breast aplasia, Spa...	OMIM:181270
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple	ORPHA:1812
Cardiofaciocutaneous Syndrome	Fine hair, Dystrophic fingernails, Generalized hyperpigmentation, Brittle hair, Multiple lentigin...	ORPHA:1340
Hallermann-Streiff Syndrome	Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp...	ORPHA:2108
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair	ORPHA:1974
Trisomy 20P	Highly arched eyebrow, Low anterior hairline, Coarse hair, Thick hair, Thick eyebrow, Low posteri...	ORPHA:261318
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Oculodentodigital Dysplasia, Autosomal Recessive	Fine hair, Sparse eyelashes	OMIM:257850
Syndromic Diarrhea	Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener...	ORPHA:84064
Genitopatellar Syndrome	Fine hair, Sparse scalp hair	ORPHA:85201
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Brittle hair, Sparse hair	OMIM:618891
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Aplasia/Hypoplasia of the eyebrow, Hypopigmented skin patches, Multiple cafe-au-lait s...	ORPHA:2637
Sener Syndrome	Coarse hair	OMIM:606156
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Thick hair, Coarse hair	ORPHA:357074
Oculodentodigital Dysplasia	Fine hair, Dry hair, Fragile nails, Slow-growing hair, Sparse hair	OMIM:164200
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Coarse hair, Hirsutism	OMIM:253220
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Adrenomyeloneuropathy	Fine hair, Lip hyperpigmentation, Frontal balding, Abnormality of skin pigmentation	ORPHA:139399
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Koolen-De Vries Syndrome	Iris hypopigmentation, Fair hair, Abnormality of hair texture	OMIM:610443
Weaver Syndrome	Deep-set nails, Thin nail, Sparse hair, Fine hair	OMIM:277590
Trichothiodystrophy	Tiger tail banding, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, Aplasia/H...	ORPHA:33364
Eec Syndrome	Fine hair, Nail dystrophy, Coarse hair, Thick eyebrow, Slow-growing hair, Sparse and thin eyebrow...	ORPHA:1896
Ablepharon Macrostomia Syndrome	Fine hair, Sparse hair, Abnormality of skin pigmentation, Absent eyebrow, Abnormal hair pattern, ...	ORPHA:920
Woodhouse-Sakati Syndrome	Fine hair, Sparse hair, Alopecia	OMIM:241080
2P15P16.1 Microdeletion Syndrome	Fine hair, Sparse and thin eyebrow, Long eyelashes, Supernumerary nipple	ORPHA:261349
Ogden Syndrome	Fine hair, Sparse and thin eyebrow, Long eyelashes	OMIM:300855
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Fine hair, Sparse hair, Cafe-au-lait spot	OMIM:613563
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Depigmentation/hyperpigmentation of skin, Abnormality of hair texture, Thick eyebrow, Abnormality...	ORPHA:73223
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Sparse and thin eyebrow	OMIM:614748
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Fine hair, Sparse hair	ORPHA:251028
Craniolenticulosutural Dysplasia	Brittle hair, Sparse hair, Forehead hyperpigmentation, Coarse hair	OMIM:607812
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome	Fine hair, Sparse hair, Hypoplastic nipples	OMIM:280000
Cerebellar-Facial-Dental Syndrome	Fine hair, Sparse hair, Sparse eyebrow	ORPHA:444072
Hallermann-Streiff Syndrome	Fine hair, Sparse eyelashes, Sparse scalp hair, Sparse and thin eyebrow, Sparse hair	OMIM:234100
Noonan Syndrome	Low posterior hairline, Coarse hair, Abnormal hair quantity, Melanocytic nevus	ORPHA:648
Opitz-Kaveggia Syndrome	Fine hair, Sparse hair, Frontal upsweep of hair	OMIM:305450
Dubowitz Syndrome	Fine hair, Low anterior hairline, Abnormality of skin pigmentation, Sparse lateral eyebrow, Spars...	ORPHA:235
Menkes Disease	Hypopigmentation of hair, Sparse hair, Woolly hair	ORPHA:565
Mucolipidosis Type Ii	Fine hair, White hair, Dry hair	ORPHA:576
Lysinuric Protein Intolerance	Fine hair, Sparse hair	OMIM:222700
Cranioectodermal Dysplasia 1	Fine hair, Short nail, Thin nail, Slow-growing hair, Sparse hair	OMIM:218330
Focal Dermal Hypoplasia	Linear hyperpigmentation, Hypoplastic nipples, Absent toenail, Brittle hair, Nail dystrophy, Reti...	OMIM:305600
Mucopolysaccharidosis Type 3	Hirsutism, Coarse hair, Thick hair, Generalized hirsutism, Pigmentary retinopathy, Synophrys	ORPHA:581
Cockayne Syndrome B	Abnormal hair morphology, Dry hair, Abnormality of skin pigmentation, Pigmentary retinopathy, Spa...	OMIM:133540
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture	ORPHA:667
Orofaciodigital Syndrome Type 1	Brittle hair, Sparse hair, Coarse hair, Alopecia	ORPHA:2750
Chime Syndrome	Fine hair, Sparse hair	ORPHA:3474
Cockayne Syndrome A	Dry hair, Abnormality of skin pigmentation, Retinal pigment epithelial mottling, Pigmentary retin...	OMIM:216400
Hajdu-Cheney Syndrome	Low anterior hairline, Coarse hair, Thick eyebrow, Generalized hirsutism, Abnormal fingernail mor...	ORPHA:955
Occipital Horn Syndrome	Coarse hair	OMIM:304150
Melnick-Needles Syndrome	Frontal hirsutism, Coarse hair	OMIM:309350
Coffin-Lowry Syndrome	Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Hyperconvex fingernails, Thick eyebrow	OMIM:303600
Fontaine Progeroid Syndrome	Small nail, Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, C...	OMIM:612289
Distal Monosomy 12Q	Fine hair, Small nail	ORPHA:96149
Myhre Syndrome	Fine hair, Sparse hair, Thick eyebrow	OMIM:139210
Cockayne Syndrome Type 3	Dry hair, Premature graying of hair	ORPHA:90324
Renpenning Syndrome 1	Sparse lateral eyebrow, Brittle hair, Sparse hair	OMIM:309500
Neuroocular Syndrome	Blue irides, Highly arched eyebrow, Small nail, Stellate iris, Brittle hair, Long eyelashes, Brus...	OMIM:619539
Coffin-Siris Syndrome 1	Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic fifth fingernail, Facial hypertricho...	OMIM:135900
Witteveen-Kolk Syndrome	Fine hair, Medial flaring of the eyebrow, High anterior hairline, Cafe-au-lait spot	OMIM:613406
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Cockayne Syndrome	Fine hair, Abnormality of retinal pigmentation, Dry hair, Pigmentary retinopathy	ORPHA:191
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair	ORPHA:83617
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Sparse scalp hair, Generalized hypopigmentation	ORPHA:534
Vascular Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Alopecia, Melanocytic nevus, Abnormality of hair texture, Aplas...	ORPHA:286
Alström Syndrome	Fine hair, Hirsutism, Frontal balding	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 Liph

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 Liph.

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

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MGI Allele	Allele Type	Produced
Liph^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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