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Gene: Slc45a2 MGI:2153040

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 45, member 2

Synonyms:

dominant brown, Aim1, bls, blanc-sale, Oca4, Dbr, Aim-1, Matp

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 Slc45a2 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 Slc45a2 (2 diseases)
Human diseases predicted to be associated with Slc45a2 (400 diseases)

The table below shows human diseases associated to Slc45a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Albinism, Oculocutaneous, Type Iv		Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Oculocutaneous Albinism Type 4		Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435

The table below shows human diseases predicted to be associated to Slc45a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Cafe-Au-Lait Spots, Multiple	Multiple cafe-au-lait spots	OMIM:114030
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Book Syndrome	Premature graying of hair	OMIM:112300
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Schizophrenia 15	Hyperactivity	OMIM:613950
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Spermatogenic Failure 12	Azoospermia, Infertility	OMIM:615413
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Cafe-au-lait spot	ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Coffin-Siris Syndrome 8	Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L...	OMIM:618362
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:261600
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow	OMIM:225050
Cortisone Reductase Deficiency 1	Alopecia, Infertility, Hirsutism, Oligomenorrhea	OMIM:604931
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Alazami-Yuan Syndrome	Hyperactivity, Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair...	OMIM:617126
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Obesity And Hypopigmentation	Red hair	OMIM:620195
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Gand Syndrome	Sparse hair, Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme...	ORPHA:381
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior	OMIM:615541
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:251270
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair	OMIM:300406
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab...	ORPHA:140936
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation	ORPHA:2720
X-Linked Recessive Ocular Albinism	Freckling, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentation	ORPHA:54
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali...	OMIM:614077
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Cryptorchidism, ...	ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation	OMIM:615516
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity, Synophrys	OMIM:300143
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Vici Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of the skin	ORPHA:1493
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy	ORPHA:79411
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Generalized hypopigmentation, Iris transillumination defect	OMIM:617306
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation	ORPHA:457260
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Cryptorchidism, Blue irides, Red hair, Fair hair	OMIM:614613
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Neurofibromatosis, Familial Spinal	Freckling, Cafe-au-lait spot	OMIM:162210
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t...	OMIM:263700
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism	OMIM:252920
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail...	ORPHA:2909
Bloom Syndrome	Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis	OMIM:210900
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Hypopigmented skin patches	ORPHA:2715
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism	OMIM:614076
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten...	ORPHA:8
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow	ORPHA:75496
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches	ORPHA:96061
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221008
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe...	OMIM:222470
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Aggressive behavior	ORPHA:85327
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Incontinentia Pigmenti	Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ...	ORPHA:464
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio...	ORPHA:84064
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Vici Syndrome	Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism	OMIM:242840
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221016
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:95159
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Bloom Syndrome	Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin	ORPHA:125
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Mandibuloacral Dysplasia	Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized...	ORPHA:1896
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ...	ORPHA:2637
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair	OMIM:252500
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis	OMIM:609136
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior...	ORPHA:233
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin	OMIM:301066
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363958
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:79277
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypop...	ORPHA:636
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling	ORPHA:910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o...	OMIM:619475
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation	ORPHA:2719
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo	OMIM:607944
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Histidinemia	Hyperactivity	ORPHA:2157
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Alopecia	OMIM:619321
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Alkaptonuria	Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail	ORPHA:56
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair	ORPHA:1974
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95455
Systemic Sclerosis	Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia	ORPHA:90291
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abn...	ORPHA:2556
Oculocerebrorenal Syndrome Of Lowe	Generalized hypopigmentation, Sparse scalp hair, Fine hair	ORPHA:534
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:797
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus	ORPHA:201
Fanconi Anemia	Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypop...	ORPHA:84
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Sotos Syndrome	Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:821
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
22Q11.2 Deletion Syndrome	Hypopigmented skin patches	ORPHA:567
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818

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 Slc45a2

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 Slc45a2.

No publications found that use IMPC mice or data for Slc45a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc45a2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc45a2^{tm1e(KOMP)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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