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, Blue irides, Hypopigmentation of hair OMIM:606574
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... 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
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
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
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... 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
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... ORPHA:241
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Alopecia, Mixed hypo... ORPHA:79397
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Schizophrenia 15
Hyperactivity OMIM:613950
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anonychia, Axillary and groin... ORPHA:69125
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of... ORPHA:79399
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin OMIM:302000
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Hyperpigmentation of th... ORPHA:189
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f... ORPHA:2251
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen... ORPHA:79133
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Epidermolysis Bullosa Acquisita
Nail dystrophy, Abnormal hair morphology, Hyperpigmentation of the skin ORPHA:46487
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Phenylketonuria
Hypopigmentation of the skin ORPHA:716
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for... OMIM:148820
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig... ORPHA:218
Phenylketonuria
Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Cortisone Reductase Deficiency 1
Oligomenorrhea, Infertility, Hirsutism, Alopecia OMIM:604931
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa... ORPHA:1807
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Freckling, Hypoplastic toenails ORPHA:1547
Obesity And Hypopigmentation
Red hair OMIM:620195
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Small nail, Hyperpigmentation of the skin, Brittle hair, Absent p... OMIM:129500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Sparse pubic hair, Sparse axillary hair, Primary amenorrhea, Hypogonadotropic hypogo... OMIM:146110
Coffin-Siris Syndrome 8
Hyperactivity, Sparse scalp hair, Long eyelashes, Thick eyebrow, Self-injurious behavior, Hypertr... OMIM:618362
Spastic Paraplegia 23, Autosomal Recessive
Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-exposed areas, Viti... OMIM:270750
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Decreased number of sweat glands, Dystrophic toenail, Hypopigmentation of the ski... ORPHA:69087
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g... ORPHA:626
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair OMIM:269920
Alazami-Yuan Syndrome
Highly arched eyebrow, Hyperactivity, Hirsutism, Synophrys, Long eyelashes, Low anterior hairline... OMIM:617126
Chronic Actinic Dermatitis
Hypopigmented skin patches, Progressive hyperpigmentation ORPHA:330064
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Lichen Planopilaris
Hypopigmented skin patches, Onycholysis, Abnormal fingernail morphology, Alopecia ORPHA:525
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Alopecia ORPHA:2584
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Menkes Disease
Alopecia, Hypopigmentation of the skin, Sparse hair, Brittle hair OMIM:309400
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Cafe... OMIM:611584
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Freckling, Hypomelanotic macule OMIM:618373
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Phakomatosis Pigmentovascularis
Hypopigmented skin patches, Generalized hyperpigmentation ORPHA:2875
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Congenital abnormal hair patte... ORPHA:1867
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches, Alopecia ORPHA:3143
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un... ORPHA:701
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter, Sparse hair OMIM:615074
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Attention defi... OMIM:619827
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Autosomal Recessive Spastic Paraplegia Type 23
Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... ORPHA:381
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Familial Melanoma
Freckling, Abnormal hair morphology ORPHA:618
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, Sparse hair, Pili torti, ... OMIM:301845
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Thick eyebrow, White ... OMIM:193500
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Multiple cafe-au-lait spots ORPHA:302
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A... ORPHA:2930
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper... ORPHA:140936
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Motor stereotypy, Synophrys OMIM:615541
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Mixed hypo- ... ORPHA:79145
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, Iris hypopigmentation, White hair, Ocular albinism ORPHA:2720
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
X-Linked Recessive Ocular Albinism
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism ORPHA:54
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Melanocytic nevus, Albinism, Fair hair, Ocular albinism OMIM:619172
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Silver-gray hair, Generalized hypopigmentation, Albinism, Blue iri... OMIM:614077
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior OMIM:615516
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Freckling OMIM:278720
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
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 hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin ORPHA:1493
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Generalized hypopigmentation OMIM:617306
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Nail dystrophy, Hirsutism, Low posterior hairline, Synophrys, Abnormal hair whorl, Spotty hypopig... OMIM:300860
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M... ORPHA:1969
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Fg Syndrome 3
Hyperactivity, Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia ORPHA:3453
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Brittle hair OMIM:236200
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Anonychia, Brushfield spots ORPHA:1784
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches, Synophrys, Aplastic/hypoplastic toenail ORPHA:1295
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Onychogryposis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Gene... ORPHA:79396
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Porphyria Variegata
Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin ORPHA:79473
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Alopecia OMIM:163200
Hermansky-Pudlak Syndrome 6
Iris transillumination defect, Hypopigmentation of the skin, Albinism, Partial albinism, Ocular a... OMIM:614075
Curry-Jones Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo... ORPHA:678
Pontocerebellar Hypoplasia, Type 7
Hirsutism, Hypopigmentation of the skin, Synophrys OMIM:614969
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Porphyria Cutanea Tarda
Hirsutism, Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin ORPHA:101330
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Porphyria, Congenital Erythropoietic
Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent eyebrow, H... OMIM:263700
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Abnormal hair morphology ORPHA:1979
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Angelman Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Fair hair ORPHA:72
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair ORPHA:457485
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Aberrant melanosome maturation, Albinism, Fair hair, Ocular albinism OMIM:608233
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Abnormality of skin pigmentation, Fine hair, Sparse hair ORPHA:1806
Bloom Syndrome
Cafe-au-lait spot, Hypopigmentation of the skin, Hypertrichosis, Spotty hypopigmentation OMIM:210900
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation ORPHA:2715
Rothmund-Thomson Syndrome
Nail dysplasia, Small nail, Abnormality of the nail, Hypopigmentation of the skin, Sparse eyelash... ORPHA:2909
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Ruvalcaba Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:3121
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyelashes, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair ORPHA:75496
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Alopecia ORPHA:47
Mosaic Trisomy 8
Hypopigmented skin patches, Hypopigmentation of the skin ORPHA:96061
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin OMIM:606764
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, 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
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia ORPHA:1647
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
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Brittle hair, Generalized hypopigmentation, Woolly hair, Curly hair, Cafe-a... OMIM:222470
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Incontinentia Pigmenti
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Abnormal hair mo... ORPHA:464
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Localized Scleroderma
Hypopigmented skin patches, Hyperpigmentation of the skin, Patchy alopecia, Vitiligo, Abnormal sk... ORPHA:90289
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... ORPHA:84064
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th... ORPHA:221008
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Vici Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism OMIM:242840
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Hepatoerythropoietic Porphyria
Loss of eyelashes, Scarring alopecia of scalp, Hyperpigmentation of the skin, Hypopigmentation of... ORPHA:95159
Gapo Syndrome
Hypopigmented skin patches, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia ORPHA:2067
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmentation of th... ORPHA:221016
Dyskeratosis Congenita
Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Apl... ORPHA:1775
Craniolenticulosutural Dysplasia
Brittle hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Sparse hair, Coars... ORPHA:50814
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Short Stature With Microcephaly And Distinctive Facies
Sparse eyebrow, Sparse scalp hair, Spotty hyperpigmentation, Spotty hypopigmentation OMIM:615789
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp... OMIM:604292
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Bloom Syndrome
Hypopigmentation of the skin, Patchy alopecia, Cafe-au-lait spot, Sparse eyelashes, Paronychia ORPHA:125
Dyskeratosis Congenita, Digenic
Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Alopecia OMIM:620040
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Small nail OMIM:251300
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp hair, Sparse eyel... OMIM:129900
Eec Syndrome
Nail dystrophy, Slow-growing hair, Generalized hypopigmentation, Sparse eyebrow, Nail pits, Thick... ORPHA:1896
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypopigmentation of the skin, Sparse hair, Brittle hair OMIM:252500
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye... ORPHA:2637
Chromomycosis
Hypopigmented skin patches ORPHA:182
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Heterochromia iridis, White forelock, White eyelashes, White eyebrow OMIM:609136
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Synophrys OMIM:301066
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmentatio... OMIM:619488
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Koolen-De Vries Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Cafe-au-lait spot, Vitiligo, Fair hair, Alopecia ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypopigmentation of the skin, Cafe-au-lait spot, Vitiligo, Fair hair, Alopecia ORPHA:363958
Congenital Erythropoietic Porphyria
Loss of eyelashes, Scarring alopecia of scalp, Hyperpigmentation of the skin, Hypopigmentation of... ORPHA:79277
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Linear hyperpigmentation, Ridged nail, Brittle hair, Hypoplastic ... OMIM:305600
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Low posterior hairline, Patchy hypopigme... ORPHA:233
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800
Infantile Krabbe Disease
Hypopigmented skin patches ORPHA:206436
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ... ORPHA:2907
Prader-Willi Syndrome
Generalized hypopigmentation, Frontal upsweep of hair OMIM:176270
Mosaic Trisomy 20
Depigmentation/hyperpigmentation of skin, Hypopigmented streaks ORPHA:1724
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Hypopigmentation of the skin, Synophrys, Abnormality of skin pigmentation, Thick e... OMIM:619475
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Melanocytic nevus, Freckling, Alopecia ORPHA:910
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches ORPHA:183
Neurofibromatosis Type 1
Hypopigmented skin patches, Inguinal freckling, Abnormal hair quantity, Multiple cafe-au-lait spo... ORPHA:636
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Generalized hirsutism, ... ORPHA:163956
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Vitiligo, Hypopigmented skin patches on arms OMIM:607944
Kindler Syndrome
Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation OMIM:173650
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Cafe-au-lait spot, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko li... OMIM:210720
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Abnormality of skin pigmentation, Abnormal h... ORPHA:920
Histidinemia
Hyperactivity ORPHA:2157
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Alopecia OMIM:619321
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Hyperpigmentation of the skin, Hypopigmentation of the skin, Anonychia ORPHA:95455
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Abnormality of the nail, Abnormal eyel... ORPHA:2556
Systemic Sclerosis
Irregular hyperpigmentation, Alopecia, Nail bed telangiectasia, Spotty hypopigmentation ORPHA:90291
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Supernumerary nipple ORPHA:2896
Oculocerebrorenal Syndrome Of Lowe
Generalized hypopigmentation, Fine hair, Sparse scalp hair ORPHA:534
Atypical Werner Syndrome
Premature graying of hair, Abnormal hair morphology, Abnormal hair quantity, White forelock, Frag... ORPHA:79474
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:797
Cowden Syndrome
Hypopigmented skin patches, Multiple cafe-au-lait spots, Melanocytic nevus ORPHA:201
Fanconi Anemia
Hypopigmented skin patches, Abnormality of skin pigmentation, Irregular hyperpigmentation, Multip... ORPHA:84
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Patchy hypo- and hyperpigmentation, Synophrys ORPHA:3063
Pallister-Killian Syndrome
Sparse anterior scalp hair, Hypopigmentation of the skin, Sparse scalp hair, Hypopigmented streak... OMIM:601803
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Sotos Syndrome
Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:821
Mend Syndrome
Spotty hypopigmentation ORPHA:401973
Mend Syndrome
Spotty hypopigmentation OMIM:300960
22Q11.2 Deletion Syndrome
Hypopigmented skin patches ORPHA:567
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc45a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc45a2.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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