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Gene: Spag9 MGI:1918084

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sperm associated antigen 9
Synonyms:
3110018C07Rik,  syd1,  Mapk8ip4,  4831406C20Rik,  JIP4,  4733401I23Rik,  JLP

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Spag9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Spag9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
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
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Gemignani Syndrome
Abnormal testis morphology, Hypopigmented skin patches ORPHA:2074
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Decreased fertility, Generalized hypopigmentation, Irregular hyperpi... ORPHA:1816
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop... ORPHA:177910
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... OMIM:613266
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... ORPHA:1807
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na... ORPHA:1867
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Obesity And Hypopigmentation
Red hair OMIM:620195
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypogonadism, Hypopigmented skin patches ORPHA:3143
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Infantile Sialic Acid Storage Disease
Fair hair, Hypopigmentation of the skin OMIM:269920
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail ORPHA:2584
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:525
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... ORPHA:381
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Abnormal testis morphology, Multiple cafe-au... ORPHA:100
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Cryptorchidism, Fair hair, Blue irides OMIM:614613
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha... OMIM:614077
Vici Syndrome
Gray matter heterotopia, Abnormality of retinal pigmentation, Hypopigmentation of the skin ORPHA:1493
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail ORPHA:1295
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... ORPHA:79430
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pse... ORPHA:786
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin OMIM:278720
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypo... ORPHA:398079
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Synophrys, Hypopigmentation of the skin, Hirsutism OMIM:614969
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Gray matter heterotopia, Axillary freckling, Hypopigmentation of the... OMIM:276300
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation ORPHA:2720
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Polymicrogyria ORPHA:457485
Bloom Syndrome
Decreased fertility in females, Cryptorchidism, Spotty hypopigmentation, Azoospermia, Cafe-au-lai... OMIM:210900
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:3453
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... ORPHA:79396
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Fron... OMIM:176270
Squalene Synthase Deficiency
Bilateral cryptorchidism, Polymicrogyria, Abnormality of hair pigmentation OMIM:618156
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... ORPHA:678
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Porphyria Variegata
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:79473
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Infertility, Sma... ORPHA:2909
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Cryptorchidism, Hypopigmented skin patches, Polymicrogyria ORPHA:1647
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis ORPHA:101330
Angelman Syndrome
Delayed menarche, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... OMIM:263700
Ruvalcaba Syndrome
Cryptorchidism, Hypopigmented skin patches, Generalized hirsutism ORPHA:3121
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Primary amenorrhea, Hypogonadism, Infertility, Hypopigm... ORPHA:398069
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Ap... ORPHA:221008
Prader-Willi Syndrome
Hypopigmentation of hair, Cryptorchidism, Perisylvian polymicrogyria, Primary amenorrhea, Hypogon... ORPHA:739
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Curry-Jones Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,... ORPHA:125
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe... OMIM:222470
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:221016
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches ORPHA:47
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Harrod Syndrome
Cryptorchidism, Hypopigmented skin patches ORPHA:2115
Incontinentia Pigmenti
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ... ORPHA:464
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... ORPHA:1775
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Gray matter heterotopia, Hypopigmentation of... OMIM:242840
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... ORPHA:84064
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... OMIM:604292
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Galloway-Mowat Syndrome 1
Pachygyria, Hypopigmentation of the skin, Small nail OMIM:251300
Tetragametic Chimerism
Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches ORPHA:199310
Localized Scleroderma
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... ORPHA:90289
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Hypogonadotropic hypogonadism, Sparse eyelashes, Sparse axillary hair, Sparse ... OMIM:129900
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... ORPHA:1359
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Hepatoerythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:95159
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized... ORPHA:1896
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Cryptorchidis... OMIM:619488
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair OMIM:252500
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... ORPHA:2637
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Testicular neoplasm, Cryptorchidism, Cafe-au-lait spot, Fair hair, Hypopigmentation of ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Testicular neoplasm, Cryptorchidism, Cafe-au-lait spot, Fair hair, Hypopigmentation of ... ORPHA:363958
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, White forelock, Heter... OMIM:609136
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu... OMIM:305600
Xeroderma Pigmentosum
Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patches, Melanocytic nevus, H... ORPHA:910
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retin... OMIM:219800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Hypopigmentation of the skin OMIM:301066
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
Chromomycosis
Hypopigmented skin patches ORPHA:182
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... ORPHA:233
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Mosaic Trisomy 20
Cryptorchidism, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:79277
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o... OMIM:619475
Infantile Krabbe Disease
Hypopigmented skin patches ORPHA:206436
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ... ORPHA:2907
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... ORPHA:636
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Alopecia, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches ORPHA:183
Fanconi Anemia
Cryptorchidism, Hypopigmented skin patches, Abnormality of skin pigmentation, Azoospermia, Decrea... ORPHA:84
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Cryptorchidism, Fine hair, Azoospermia, Generalized hypopigmentation ORPHA:534
Pitt-Hopkins Syndrome
Cryptorchidism, Hypopigmented skin patches, Supernumerary nipple ORPHA:2896
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abn... ORPHA:2556
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:95455
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:797
Cowden Syndrome
Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus ORPHA:201
Sotos Syndrome
Cryptorchidism, Sparse anterior scalp hair, Decreased fertility, Hydrocele testis, Small nail, Hy... ORPHA:821
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Cryptorchidi... OMIM:601803
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypopigmented skin patches ORPHA:567
Alström Syndrome
Hypergonadotropic hypogonadism, Precocious puberty in females, Testicular fibrosis, Hypoplasia of... ORPHA:64

Histopathology

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

There is no histopathology data for Spag9

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 Spag9.

No publications found that use IMPC mice or data for Spag9.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Spag9tm71(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Spag9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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