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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
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
Liphtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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