Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (390 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		Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Oculocutaneous Albinism Type 4		Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re...	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, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft	OMIM:609227
Neurofibromatosis Type 6	Freckling, Multiple cafe-au-lait spots	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
Cafe-Au-Lait Spots, Multiple	Multiple cafe-au-lait spots	OMIM:114030
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
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	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e...	ORPHA:42665
Dilution, Pigmentary	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:126070
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ...	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, Iris hypopigmentation, Partial albinism	ORPHA:79478
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter...	OMIM:619947
Dyschromatosis Universalis Hereditaria	Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype...	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	Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ...	OMIM:617294
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Book Syndrome	Premature graying of hair	OMIM:112300
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides	OMIM:103500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches	ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Waardenburg Syndrome, Type 2B	White forelock, Heterochromia iridis, Premature graying of hair	OMIM:600193
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation...	OMIM:145250
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia...	ORPHA:998
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect	OMIM:619165
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Albinism-Deafness Syndrome	Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Waardenburg Syndrome, Type 4B	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	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
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan...	OMIM:607624
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Oculocutaneous Albinism Type 3	Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig...	ORPHA:79433
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Waardenburg Syndrome, Type 2A	Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente...	OMIM:193510
Drug-Induced Localized Lipodystrophy	Hyperpigmentation of the skin, Hypopigmentation of the skin	ORPHA:90157
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Ermine Phenotype	Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo	OMIM:227010
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment...	ORPHA:79397
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ...	OMIM:203200
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Multiple cafe-au-lait spots	ORPHA:1336
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig...	OMIM:131960
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti...	OMIM:172800
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Schizophrenia 15	Hyperactivity	OMIM:613950
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan...	OMIM:256710
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	Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph...	ORPHA:69125
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,...	ORPHA:89838
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles	OMIM:601706
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Hypertrichosis Lanuginosa Congenita	Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism	ORPHA:2222
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment...	ORPHA:2885
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,...	ORPHA:79399
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ...	ORPHA:895
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Waardenburg Syndrome, Type 4A	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:277580
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re...	ORPHA:79435
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Woolly Hair	Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ...	ORPHA:170
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Hidrotic Ectodermal Dysplasia	Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ...	ORPHA:189
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Retinitis Pigmentosa 35	Abnormality of skin pigmentation	OMIM:610282
Hypotrichosis 8	Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h...	OMIM:278150
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi...	ORPHA:2251
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Cafe-au-lait spot	ORPHA:436151
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist...	ORPHA:79133
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat...	ORPHA:3437
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Oculocutaneous Albinism	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ...	ORPHA:55
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:616760
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Epidermolysis Bullosa Acquisita	Hyperpigmentation of the skin, Abnormal hair morphology, Nail dystrophy	ORPHA:46487
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo...	ORPHA:1816
Uncombable Hair Syndrome 3	Pili canaliculi, Curly hair, Uncombable hair, Brittle hair	OMIM:617252
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Idiopathic Localized Lipodystrophy	Hyperpigmentation of the skin, Hypopigmentation of the skin	ORPHA:90158
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Oculocutaneous Albinism Type 1	Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect...	ORPHA:352731
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ...	ORPHA:79431
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized hypopigmentation, Spotty hyperpigmentation, Hyperpigmentation of the skin, Nail dystr...	ORPHA:158681
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Nail d...	ORPHA:79402
Piebaldism	Piebaldism, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches, White forelock...	ORPHA:2884
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Melanocytic nevus, Pili torti, Brittle hair, Fine hair, Freckling	ORPHA:1573
Waardenburg Syndrome, Type 3	Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i...	OMIM:148820
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Palmoplantar Keratoderma And Congenital Alopecia 1	Sparse eyebrow, Alopecia, Leukonychia, Brittle hair, Nail dysplasia, Hyperpigmentation of the ski...	OMIM:104100
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ...	ORPHA:999
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia	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
Spermatogenic Failure 12	Infertility, Azoospermia	OMIM:615413
Cortisone Reductase Deficiency 1	Alopecia, Infertility, Hirsutism, Oligomenorrhea	OMIM:604931
Waardenburg Syndrome, Type 4C	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613266
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Nail pits, Thin nail, Circumungual hyperkeratosis, Ridge...	ORPHA:79153
Phenylketonuria	Fair hair, Blue irides, Generalized hypopigmentation	OMIM:261600
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment...	OMIM:203100
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Sparse scalp hair	OMIM:225050
Darier Disease	Abnormality of skin pigmentation, Abnormality of the nail, Abnormal hair morphology, Hypermelanot...	ORPHA:218
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos...	OMIM:203300
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow...	ORPHA:897
Waardenburg Syndrome Type 1	Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches,...	ORPHA:894
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology	ORPHA:1810
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Infertility, Sparse pubic hair, Primary amenorrhea, Hypogonadotropic hypogo...	OMIM:146110
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Freckling, Hypoplastic toenails	ORPHA:1547
Focal Facial Dermal Dysplasia Type Iii	Sparse lateral eyebrow, Hypopigmented skin patches, Multiple cafe-au-lait spots, Abnormal hair pa...	ORPHA:1807
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:261304
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Sea-Blue Histiocytosis	Hyperpigmentation of the skin, Hypopigmentation of the skin	ORPHA:158029
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai...	OMIM:129500
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Smith-Magenis syndrome	Hyperactivity	DECIPHER:8
Naegeli-Franceschetti-Jadassohn Syndrome	Dystrophic toenail, Hypopigmentation of the skin, Malalignment of the great toenail, Decreased nu...	ORPHA:69087
Spastic Paraplegia 23, Autosomal Recessive	Vitiligo, Premature graying of body hair, Hyperpigmentation in sun-exposed areas, Multiple lentig...	OMIM:270750
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo...	ORPHA:626
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Alazami-Yuan Syndrome	Hyperactivity, Synophrys, Long eyelashes, Hirsutism, Thick eyebrow, Highly arched eyebrow, Low an...	OMIM:617126
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Chronic Actinic Dermatitis	Hypopigmented skin patches, Progressive hyperpigmentation	ORPHA:330064
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ...	ORPHA:3214
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches	ORPHA:2584
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis, Hypopigmented skin patches	ORPHA:525
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Menkes Disease	Alopecia, Hypopigmentation of the skin, Sparse hair, Brittle hair	OMIM:309400
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Familial Hyperprolactinemia	Female hypogonadism, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea	ORPHA:397685
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Waardenburg Syndrome, Type 2E	Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta...	OMIM:611584
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Freckling, Alopecia of scalp, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy	OMIM:618373
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:301008
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
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Spotty hypopigmentation, Congenital abnormal hair pattern, Hyperpigmentation of the ski...	ORPHA:1867
Developmental And Epileptic Encephalopathy 43	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617113
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Hermansky-Pudlak Syndrome 6	Albinism, Hypopigmentation of the skin, Ocular albinism	OMIM:614075
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Porokeratosis	Abnormality of skin pigmentation	ORPHA:79358
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Waardenburg Syndrome	Abnormality of skin pigmentation, Abnormal eyebrow morphology, Premature graying of hair, Synophr...	ORPHA:3440
Carney Complex, Type 1	Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair	OMIM:160980
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, Premature graying of hair, Iris hypopigmentation, Hypopigmented skin...	ORPHA:381
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Waardenburg Syndrome, Type 1	Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Thick eyebrow, White forelo...	OMIM:193500
Bazex Syndrome	Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Hyperpigmentation of the skin, ...	OMIM:301845
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:251270
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Hypogonadism-Cataract Syndrome	Male hypogonadism, Infertility, Hypogonadism	OMIM:240950
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Cronkhite-Canada Syndrome	Sparse body hair, Alopecia, Dystrophic toenail, Abnormality of skin pigmentation, Aplasia/Hypopla...	ORPHA:2930
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Abnormality of skin pigmentation, Sparse hair, Nail dystrophy	OMIM:616353
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, White hair, Generalized hypopigmentation, Ocular albinism	ORPHA:2720
Lelis Syndrome	Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Perioral hyperpigmentation, Abnorma...	ORPHA:140936
Hypomelanosis Of Ito	Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
X-Linked Recessive Ocular Albinism	Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism	ORPHA:54
Hermansky-Pudlak Syndrome 11	Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair	OMIM:619172
Dowling-Degos Disease	Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Abnormal...	ORPHA:79145
Hermansky-Pudlak Syndrome 8	Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Silver-gr...	OMIM:614077
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Chediak-Higashi Syndrome	Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment...	OMIM:214500
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair	ORPHA:2221
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Hermansky-Pudlak Syndrome	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye...	ORPHA:79430
Vici Syndrome	Hypopigmentation of the skin, Abnormality of retinal pigmentation	ORPHA:1493
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Abnormality of skin pigmentation, 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, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti...	ORPHA:1969
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:3453
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Brittle hair	OMIM:236200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation	ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity	OMIM:301076
Adult Syndrome	Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Absent n...	ORPHA:978
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Aplastic/hypoplastic toenail, Hypopigmented skin patches	ORPHA:1295
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Acrofrontofacionasal Dysostosis	Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Anonychia, Hypopigmented skin patches	ORPHA:1784
Epidermal Nevus Syndrome	Hyperpigmentation of the skin, Hypopigmentation of the skin	ORPHA:35125
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Spotty hypopigmentation, Synophrys, Hirsutism, Abnormal hair whorl, Low posterior hairline, Nail ...	OMIM:300860
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Onychogryposis, Depigmentation/hyperpigmentation of skin,...	ORPHA:79396
Neurofibromatosis, Familial Spinal	Freckling, Cafe-au-lait spot	OMIM:162210
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Crouzon Syndrome	Melanocytic nevus, Hypopigmented skin patches	ORPHA:207
Papillon-Lefèvre Syndrome	Sparse body hair, Abnormality of the nail, Hypopigmented skin patches, Abnormal fingernail morpho...	ORPHA:678
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Intellectual Developmental Disorder, X-Linked 21	Impulsivity, Hyperactivity, Synophrys	OMIM:300143
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Porphyria Variegata	Hyperpigmentation of the skin, Hypopigmentation of the skin, Hypertrichosis	ORPHA:79473
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Absent eyebrow, Hyperpigmentation of the skin, Loss of ey...	OMIM:263700
Curry-Jones Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:1553
Porphyria Cutanea Tarda	Hyperpigmentation of the skin, Hypopigmentation of the skin, Hirsutism, Hypertrichosis	ORPHA:101330
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Mismatch Repair Cancer Syndrome 1	Axillary freckling, Hypopigmentation of the skin, Multiple cafe-au-lait spots	OMIM:276300
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair	ORPHA:1979
Hermansky-Pudlak Syndrome 2	Generalized hypopigmentation, Ocular albinism, Fair hair, Albinism, Aberrant melanosome maturation	OMIM:608233
Buschke-Ollendorff Syndrome	Generalized hypopigmentation	ORPHA:1306
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Abnormality of skin pigmentation, Sparse hair, Fine hair	ORPHA:1806
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Abnormality of the na...	ORPHA:2909
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Angelman Syndrome	Fair hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:72
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Hypopigmented skin patches	ORPHA:2715
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:3121
Bloom Syndrome	Spotty hypopigmentation, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertrichosis	OMIM:210900
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyelashes, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair	ORPHA:75496
Prader-Willi Syndrome	Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig...	OMIM:176270
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
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat...	ORPHA:163746
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Chédiak-Higashi Syndrome	Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu...	ORPHA:167
Hermansky-Pudlak Syndrome 5	Albinism, Iris transillumination defect, Ocular albinism	OMIM:614074
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98754
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:1647
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98793
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp...	ORPHA:177907
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Nail dysplasia...	ORPHA:221008
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177901
Incontinentia Pigmenti	Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Breast aplasia, Supernumer...	OMIM:308300
Trichohepatoenteric Syndrome 1	Curly hair, Cafe-au-lait spot, Trichorrhexis nodosa, Generalized hypopigmentation, Brittle hair, ...	OMIM:222470
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Incontinentia Pigmenti	Alopecia, Irregular hyperpigmentation, Abnormality of skin pigmentation, Dystrophic toenail, Supe...	ORPHA:464
Syndromic Diarrhea	Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle hair, Woolly hair,...	ORPHA:84064
Porphyria	Abnormality of skin pigmentation	ORPHA:738
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h...	ORPHA:3322
Vici Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism	OMIM:242840
Prader-Willi-Like Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398073
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, 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
Hepatoerythropoietic Porphyria	Hypopigmentation of the skin, Scarring alopecia of scalp, Facial hypertrichosis, Hyperpigmentatio...	ORPHA:95159
Localized Scleroderma	Hypopigmented skin patches, Abnormality of skin adnexa morphology, Patchy alopecia, Vitiligo, Hyp...	ORPHA:90289
Gapo Syndrome	Alopecia, Sparse eyebrow, Hypopigmented skin patches, Sparse eyelashes, Early balding	ORPHA:2067
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Craniolenticulosutural Dysplasia	Abnormality of skin pigmentation, Brittle hair, Coarse hair, Hyperpigmentation of the skin, Spars...	ORPHA:50814
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Short Stature With Microcephaly And Distinctive Facies	Spotty hypopigmentation, Sparse scalp hair, Spotty hyperpigmentation, Sparse eyebrow	OMIM:615789
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized...	ORPHA:238468
Dyskeratosis Congenita	Alopecia, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Abn...	ORPHA:1775
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,...	OMIM:604292
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Alopecia	OMIM:620040
Bloom Syndrome	Hypopigmentation of the skin, Cafe-au-lait spot, Patchy alopecia, Paronychia, Sparse eyelashes	ORPHA:125
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Eec Syndrome	Sparse eyebrow, Generalized hypopigmentation, Fine hair, Nail pits, Coarse hair, Thick eyebrow, N...	ORPHA:1896
Mandibuloacral Dysplasia	Hypoplastic fingernail, Alopecia, Abnormality of skin pigmentation, Sparse hair	ORPHA:2457
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Aplasia/Hypoplasia of the eyebrow, Multiple cafe-au-lait spots, Fine hair, Hypopigmented skin pat...	ORPHA:2637
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,...	OMIM:129900
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Hypopigmentation of the skin, Sparse hair, Brittle hair	OMIM:252500
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin	OMIM:301066
Bone Marrow Failure Syndrome 3	Small nail, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Nai...	OMIM:617052
Duane Retraction Syndrome	Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central heterochromia, Hypopigmente...	ORPHA:233
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis	OMIM:609136
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Degcags Syndrome	Hypopigmentation of the skin, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Prem...	OMIM:619488
Rare Cutaneous Lupus Erythematosus	Leukonychia, Nail bed telangiectasia, Mixed hypo- and hyperpigmentation of the skin, Nail bed hem...	ORPHA:535
Congenital Erythropoietic Porphyria	Hypopigmentation of the skin, Scarring alopecia of scalp, Facial hypertrichosis, Hyperpigmentatio...	ORPHA:79277
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypopigmentation of the skin, Cafe-au-lait spot, Fair hair, Vitiligo	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypopigmentation of the skin, Cafe-au-lait spot, Fair hair, Vitiligo	ORPHA:363958
Focal Dermal Hypoplasia	Hypopigmentation of the skin, Linear hyperpigmentation, Brittle hair, Absent toenail, Absent fing...	OMIM:305600
Cystinosis, Nephropathic	Hypopigmentation of hair, Hypopigmentation of the skin, Pigmentary retinopathy, Retinal pigment e...	OMIM:219800
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Hereditary Acrokeratotic Poikiloderma	Dystrophic toenail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic fingernai...	ORPHA:2907
Neurofibromatosis Type 1	Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti...	ORPHA:636
Mosaic Trisomy 20	Depigmentation/hyperpigmentation of skin, Hypopigmented streaks	ORPHA:1724
Xeroderma Pigmentosum	Alopecia, Melanocytic nevus, Hypopigmented skin patches, Freckling, Hypermelanotic macule	ORPHA:910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Abnormality of skin pigmentation, Melanocytic nevus, Synophrys, Bro...	OMIM:619475
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Kindler Syndrome	Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation	OMIM:173650
Histidinemia	Hyperactivity	ORPHA:2157
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Spondyloenchondrodysplasia With Immune Dysregulation	Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms	OMIM:607944
Scleroderma	Spotty hypopigmentation, Irregular hyperpigmentation, Alopecia	ORPHA:801
X-Linked Intellectual Disability, Nascimento Type	Patchy hypo- and hyperpigmentation, Synophrys, Lumbar hypertrichosis, Abnormal hair whorl, Low po...	ORPHA:163956
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Generalized hypopigmentation	OMIM:619321
Ablepharon Macrostomia Syndrome	Abnormality of skin pigmentation, Absent eyelashes, Fine hair, Absent eyebrow, Abnormal hair patt...	ORPHA:920
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Alkaptonuria	Irregular hyperpigmentation, Abnormality of skin pigmentation, Abnormality of the nail	ORPHA:56
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair	ORPHA:1974
Systemic Sclerosis	Spotty hypopigmentation, Irregular hyperpigmentation, Nail bed telangiectasia, Alopecia	ORPHA:90291
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Hypopigmentation of the skin, Hyperpigmentation of the skin, Anonychia, Nail dystrophy, Trichiasis	ORPHA:95455
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of skin pigmentation, Abnormality of the nail, Abnormality of retinal pigmentation, H...	ORPHA:2556
Pitt-Hopkins Syndrome	Supernumerary nipple, Hypopigmented skin patches	ORPHA:2896
Atypical Werner Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Patchy hypo- and hyperpigmentation...	ORPHA:79474
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Sparse scalp hair, Generalized hypopigmentation	ORPHA:534
Sarcoidosis	Hyperpigmentation of the skin, Hypopigmentation of the skin, Alopecia	ORPHA:797
Cowden Syndrome	Multiple cafe-au-lait spots, Melanocytic nevus, Hypopigmented skin patches	ORPHA:201
Fanconi Anemia	Irregular hyperpigmentation, Abnormality of skin pigmentation, Multiple cafe-au-lait spots, Hypop...	ORPHA:84
Acrodysostosis With Multiple Hormone Resistance	Hyperactivity, Hypogonadism, Fair hair, Blue irides, Red hair	ORPHA:280651
X-Linked Intellectual Disability, Snyder Type	Synophrys, Patchy hypo- and hyperpigmentation, Sparse eyebrow	ORPHA:3063
Menkes Disease	Hypopigmentation of hair, Sparse hair, Woolly hair	ORPHA:565
Pallister-Killian Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Sparse scalp hair, Alopecia, Hypopigmented streaks,...	OMIM:601803
Sotos Syndrome	Hyperpigmentation of the skin, Hypopigmentation of the skin, Small nail, Sparse anterior scalp hair	ORPHA:821
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
22Q11.2 Deletion Syndrome	Hypopigmented skin patches	ORPHA:567
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Abnormal eyelash morphology	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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us