Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dedicator of cytokinesis 7
Synonyms:
3110056M06Rik,  LOC242555,  m

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 Dock7 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 Dock7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Poor eye contact, Long eyelashes, Synophrys, Thick eyebrow ORPHA:411986
Developmental And Epileptic Encephalopathy 23
Low anterior hairline, Thick eyebrow OMIM:615859

The table below shows human diseases predicted to be associated to Dock7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Book Syndrome
Premature graying of hair OMIM:112300
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
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
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
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
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Cafe-au-lait spot ORPHA:436151
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Cellulitis, Neutropenia, Thromb... ORPHA:238459
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Short finger, Alopecia totalis, Hyperpigmentation of the skin, Tapered f... OMIM:302000
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,... OMIM:131960
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Prolonged ble... OMIM:277480
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Prolonged bleeding time, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Pal... ORPHA:79397
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism ORPHA:2222
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis, White forelock OMIM:277740
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation o... ORPHA:2513
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Palmoplantar blistering, Abnormal fingernail morphology, Ridged nail, Hyperpigmen... ORPHA:89838
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Narrow palm, Small hand, Abnormality of ulnar me... ORPHA:177910
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Prolonged bleeding after surgery... OMIM:193400
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Palmoplantar keratoderma, Scarring alopecia of scalp... ORPHA:79402
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Epidermolysis Bullosa Acquisita
Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology ORPHA:46487
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of limb bone morphology, Freckling, Melanocytic nevus, Sparse scalp hair, Brittle hai... ORPHA:1573
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Intracranial hemorrhage, Leukocytosis, Weig... ORPHA:3226
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Freckling, Hypoplastic toenails, Short distal phalanx of finger ORPHA:1547
Aland Island Eye Disease
Albinism OMIM:300600
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmenta... OMIM:104100
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Premature graying of hair, Carpa... OMIM:148820
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Abcd Syndrome
Albinism OMIM:600501
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Darier Disease
Abnormality of skin pigmentation, Abnormality of the nail, Abnormal hair morphology, Palmoplantar... ORPHA:218
Clouston Syndrome
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... OMIM:129500
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Bilateral single transverse palmar creases, Small han... ORPHA:444002
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Toe syndactyly, Ocu... ORPHA:999
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613988
Terminal Osseous Dysplasia
Abnormality of skin pigmentation, Mesomelic arm shortening, Camptodactyly of finger, Abnormal han... OMIM:300244
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Cellulitis, Internal hemorrhage, Gastrointestinal hemorrhage, Microcytic... ORPHA:90308
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule, Hyporeflexia of upper limbs OMIM:609056
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Nail dysplasia, Sparse and thin eyebrow, Sparse scalp hair OMIM:225050
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Hidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Hand polydactyly, Onycholysis, Palmoplantar keratoderma, Finger synd... ORPHA:189
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Hypopigmented ski... ORPHA:53271
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Dentinogenesis Imperfecta
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Grayish enamel... ORPHA:49042
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly, Shyness OMIM:300801
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Hip dislocation, Multiple lentigines ORPHA:101003
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
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
Macs Syndrome
Decreased body weight, Prolonged bleeding time, Umbilical hernia, Bruising susceptibility OMIM:613075
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Bazex Syndrome
Sparse hair, Coarse hair, Trichoepithelioma, Hyperpigmentation of the skin, Trichorrhexis nodosa,... OMIM:301845
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Patchy... ORPHA:2930
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Narrow foramen obturatorium, Joint contracture of the hand, Hyp... ORPHA:220402
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Red hair, Cone-shaped epiphysis, Fair hair, Short meta... OMIM:614613
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Atrichia, Spotty hypopigmentation, Short finger, Hyperpigmentat... ORPHA:1867
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... ORPHA:626
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Prolonged bleeding time, Scarring, Inguinal hernia, Hernia, Abnormality of subcuta... ORPHA:1901
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia... OMIM:608233
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Adult Syndrome
Freckling, Nail pits, Toe syndactyly, Abnormality of the nail, Absent nipple, Finger syndactyly, ... ORPHA:978
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin OMIM:614171
Lelis Syndrome
Vitiligo, Yellow nails, Sparse hair, Perioral hyperpigmentation, Sparse lateral eyebrow, Absent l... ORPHA:140936
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613987
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Prolonged bleeding time, Decreased propor... OMIM:301000
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Epistaxis, Bruising susceptibility, Gingival bleeding OMIM:203300
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Prolonged bleeding time, Hemolytic anemia... OMIM:600903
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Bone spicule pigmentation of the retina OMIM:611040
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Mixed Connective Tissue Disease
Hemolytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Leukopenia, Sple... ORPHA:809
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Iris transillumination defect OMIM:619172
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Palmoplantar keratoderma, Abnormal hair morphology, Premature g... ORPHA:1979
Adult Syndrome
Freckling, Nail pits, Toe syndactyly, Absent nipple, Breast hypoplasia, Split hand, Sparse axilla... OMIM:103285
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Palmoplantar cutis gyrata, Sparse scalp hair, Long toe, Sparse ... ORPHA:75496
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Cone-Rod Dystrophy 10
Abnormality of skin pigmentation OMIM:610283
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Brachydactyly, Sandal gap ORPHA:2180
Squalene Synthase Deficiency
Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Abnormality of hair pigmentation OMIM:618156
Diffuse Cutaneous Mastocytosis
Abnormality of skin pigmentation ORPHA:79456
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Gastrointestinal hemorrha... ORPHA:99147
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Failure to thrive OMIM:617049
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Cohen Syndrome
Abnormality of skin pigmentation, Genu valgum, Abnormality of retinal pigmentation, Cubitus valgu... ORPHA:193
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Prolonged prothr... ORPHA:49566
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Congenital hip dislocation, Red hair OMIM:229200
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Gingival bleeding, Abnormal umbilical st... ORPHA:335
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
Porphyria
Abnormality of skin pigmentation, Dupuytren contracture ORPHA:738
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Acroosteolysis of distal phalanges (feet), Osteolytic defects o... ORPHA:2457
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Impaired social interactions, Overlapping toe, C... ORPHA:177907
Incontinentia Pigmenti
Abnormality of skin pigmentation, Nail pits, Sparse hair, Breast hypoplasia, Ridged nail, Coarse ... OMIM:308300
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Abnormality of the upper limb ORPHA:834
Relapsing Fever
Abnormal bleeding, Leukocytosis, Epistaxis, Thrombocytopenia, Leukopenia, Anemia, Neutrophilia, P... ORPHA:91547
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Incontinentia Pigmenti
Abnormality of skin pigmentation, Absent hand, Camptodactyly of finger, Irregular hyperpigmentati... ORPHA:464
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Sparse hair, Coarse hair, Hyperpigmentation of the skin, Brittl... ORPHA:50814
Prader-Willi Syndrome
Hip dysplasia, Genu valgum, Iris hypopigmentation, Hypopigmentation of hair, Acromicria, Narrow p... OMIM:176270
Lamb-Shaffer Syndrome
Hip dysplasia, Abnormal social behavior ORPHA:530983
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, Spotty hypopigmentation, Abnormal social ... ORPHA:401973
Koolen-De Vries Syndrome
Overfriendliness, Hypopigmentation of hair, Abnormality of hair texture, Hip dislocation, Arachno... ORPHA:96169
Brittle Cornea Syndrome
Hip dysplasia, Abnormality of hair pigmentation, Abnormality of epiphysis morphology, Camptodacty... ORPHA:90354
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Finger syndactyly, Down-sloping shoulders, Widow's peak, Coar... ORPHA:1974
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Failure to thrive ORPHA:95428
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
48,Xxxy Syndrome
Radioulnar synostosis, Elbow dislocation, Abnormality of epiphysis morphology, Abnormal social be... ORPHA:96263
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Cigarette-paper scars, Prolonged bleeding time, Atrophic scars, Umbilical hernia, ... ORPHA:287
Bone Marrow Failure Syndrome 3
Abnormality of skin pigmentation, Small nail, Sparse hair, Congenital hip dislocation, Metaphysea... OMIM:617052
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... ORPHA:244242
Shwachman-Diamond Syndrome 2
Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, Prolonged prothrombin time OMIM:617941
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Iron deficiency anemia, Thrombocytosis, Weight loss, Failure to thrive, Prolon... OMIM:212750
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Poor eye contact, Long eyelashes, Synophrys, Thick eyebrow ORPHA:411986
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Failure to thrive ORPHA:99901
Fg Syndrome Type 1
Abnormal thumb morphology, Broad toe, Finger syndactyly, Abnormal social behavior, Limited elbow ... ORPHA:93932
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Absent radius, Cafe-au-lait spot, Short thumb, Absent thumb, Co... OMIM:600901
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Flexion contracture, Prolonged prothrombin time, Failure to thrive ORPHA:367
Dubowitz Syndrome
Abnormality of skin pigmentation, Low anterior hairline, Hypoplastic toenails, Broad thumb, Toe s... ORPHA:235
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Leukopenia, Anemia, Failure to thrive, Prolonge... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Leukopenia, Anemia, Failure to th... OMIM:603553
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Abnor... ORPHA:2092
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Absent radius, Cafe-au-lait spot, Short thumb, Absent thumb, Co... OMIM:227650
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Failure to th... OMIM:212065
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Hypopigmentation of the skin OMIM:242840
Hennekam-Beemer Syndrome
Abnormality of skin pigmentation, Camptodactyly of finger, Irregular hyperpigmentation, Generaliz... ORPHA:2135
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Hermansky-Pudlak Syndrome 8
Albinism, Ocular albinism OMIM:614077
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Abnormal thumb morphology, Ocular albinism, Arac... ORPHA:2719
Syndromic Diarrhea
Hypopigmentation of hair, Uncombable hair, Brittle hair, Cafe-au-lait spot, Woolly hair, Trichorr... ORPHA:84064
Ablepharon Macrostomia Syndrome
Abnormality of skin pigmentation, Camptodactyly of finger, Toe syndactyly, Sparse hair, Absent ey... ORPHA:920
Acrodysostosis With Multiple Hormone Resistance
Short metatarsal, Short phalanx of finger, Red hair, Cone-shaped epiphysis, Short metacarpal, Fai... ORPHA:280651
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Frontal balding, Lip hyperpigmentation, Fine hair ORPHA:139399
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Neutropenia, Thrombocytopenia, Petec... ORPHA:2330
Koolen-De Vries Syndrome Due To A Point Mutation
Vitiligo, Overfriendliness, Abnormal social behavior, Anomaly of lower limb diaphyses, Fair hair,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vitiligo, Overfriendliness, Abnormal social behavior, Anomaly of lower limb diaphyses, Fair hair,... ORPHA:363958
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Parti... OMIM:227646
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Weight loss, Leukopenia, Anemia, Prolonged prothrombin time ORPHA:20
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Small for gestational age, Intraventricular hemorrhage, Failure to th... OMIM:619055
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time, Obesity ORPHA:96168
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Isolated Biliary Atresia
Small for gestational age, Failure to thrive, Splenomegaly, Severe failure to thrive, Prolonged p... ORPHA:30391
Dihydropyrimidine Dehydrogenase Deficiency
Deep palmar crease, Abnormal social behavior, Long eyelashes, Short nail, Epiphyseal dysplasia, M... ORPHA:1675
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Splenomegaly OMIM:618641
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Ring Chromosome 13 Syndrome
Abnormality of skin pigmentation, Absent foot, Aplasia/hypoplasia involving bones of the hand, Ap... ORPHA:96176
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Failure to thrive ORPHA:88618
Ring Chromosome 7 Syndrome
Abnormality of skin pigmentation, 3-4 toe syndactyly, Genu valgum, Short 5th finger, Low anterior... ORPHA:1449
Carney Complex
Red hair, Hirsutism, Cafe-au-lait spot, Profuse pigmented skin lesions, Hypermelanotic macule, Mu... ORPHA:1359
Sialuria
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Proteus Syndrome
Abnormality of skin pigmentation, Generalized hirsutism, Central heterochromia, Abnormality of re... ORPHA:744
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Failure to thrive ORPHA:71212
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Short 4th metacarpal, Camptodactyly of finger, Palmoplantar ker... ORPHA:2908
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Anemia, Failure to thrive, Acanthocytosis, Prolonged prothrom... ORPHA:14
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Cystinosis, Nephropathic
Genu valgum, Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottlin... OMIM:219800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Corneal scarring, Small for gestational age, Failure to thrive, Sple... ORPHA:404454
Tuberous Sclerosis Complex
Abnormal social behavior, Hypomelanotic macule, Ungual fibroma ORPHA:805
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Failure to thrive in infancy, Anemia, Hepatosplen... ORPHA:247598
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Prolonged prothrombin time, Splenomegaly ORPHA:309854
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Prolonged prothrombin time, Weight loss, Splenomegaly ORPHA:171
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Bruisi... ORPHA:90062
Williams Syndrome
Genu valgum, Overfriendliness, Hypoplastic toenails, Radioulnar synostosis, Abnormal fingernail m... ORPHA:904
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Developmental And Epileptic Encephalopathy 23
Low anterior hairline, Thick eyebrow OMIM:615859

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 Dock7

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 Dock7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CRISPR/Cas9-Mediated Insertion of loxP Sites in the Mouse Dock7 Gene Provides an Effective Alternative to Use of Targeted Embryonic Stem Cells. G3 (Bethesda, Md.) (July 2016) Dock7tm1a(EUCOMM)Wtsi PMC4938658

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MGI Allele Allele Type Produced
Dock7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dock7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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