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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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.

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MGI Allele Allele Type Produced
Slc45a2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc45a2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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