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,  m,  LOC242555

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
Long eyelashes, Thick eyebrow, Poor eye contact, Low anterior hairline, Synophrys ORPHA:411986
Developmental And Epileptic Encephalopathy 23
Thick eyebrow, Low anterior hairline 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
Abnormal hair morphology, White hair OMIM:310900
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... 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
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, White forelock, Osteopathia striata, Abnormality of... ORPHA:2779
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, 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
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
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
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Glanzmann Thrombasthenia 2
Epistaxis, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephri... OMIM:619267
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Abnormal social behavior ORPHA:436151
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hypermelanotic macule, Spotty... ORPHA:241
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:608404
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Gingival ble... OMIM:231200
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Prolonged blee... OMIM:600208
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair 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
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Sparse bod... OMIM:617294
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Thrombocytopenia, Neutrophil inclusion bodies, Prolo... OMIM:605249
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:155100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Slc35A1-Cdg
Cellulitis, Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, ... ORPHA:238459
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Tapered finger, Hyperpigmentation of the skin, Short finger, Alopecia to... OMIM:302000
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Discrete 2 to 5-mm hyper- and hypopigmented macules, Punctate palmoplantar hyperk... OMIM:131960
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypomelanotic macule, Nail dysplasia, Mixed hypo- and hyperpigmentation of ... ORPHA:79397
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Reticulocyt... OMIM:314050
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Triphalangeal thumb, Sho... ORPHA:2251
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Fechtner syndrome
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Thrombocytopen... OMIM:153640
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis OMIM:277740
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Absence of alpha gra... OMIM:187900
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes OMIM:300650
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy OMIM:616353
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Myh9-Related Disease
Congenital thrombocytopenia, Bruising susceptibility, Menorrhagia, Giant platelets, Spontaneous, ... ORPHA:182050
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, Generalized hypopigmentation, White eyelashes OMIM:103500
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Aplasia/Hypoplasia of the distal ph... ORPHA:2513
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Palmoplantar hyperkeratosis, Dystrophic toenail, Palmoplantar blist... ORPHA:89838
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia, Abnormal bleeding OMIM:185050
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Hyperpigmentation of the skin, Freckling OMIM:194400
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Abnormality of ulnar metaphysis, Hypopigmentation of the skin, Narrow p... ORPHA:177910
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Abnormal social behavior, Clinodactyly of the 5th finger, Thick eyebrow, Poor eye ... ORPHA:444002
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia... ORPHA:79402
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... OMIM:193400
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Abnormality of limb bone morphology, Pili torti, Fine hair, Freckling, Sparse scalp... ORPHA:1573
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Prolonged bleeding time, Abnormal bleedin... OMIM:614074
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Sp... ORPHA:3226
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Aland Island Eye Disease
Albinism OMIM:300600
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Freckling, Brachytelomesophalangy, Hypoplastic toenails ORPHA:1547
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Anonychia, Nail dystrophy ORPHA:79411
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Hypopigmentation of... OMIM:601957
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Brittle hair, Nail dysplasia, Sparse eyebrow, Hyperpigmentation of the ... OMIM:104100
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, Heterochromia iridis, ... OMIM:148820
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Ecchymosis, Abnormal platelet... OMIM:614075
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Abcd Syndrome
Albinism OMIM:600501
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Prolonge... ORPHA:3318
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Darier Disease
Abnormality of the nail, Palmoplantar keratoderma, Abnormality of skin pigmentation, Abnormal hai... ORPHA:218
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse ... OMIM:129500
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Vitiligo, Nail pits, Thin nail, Nail dystr... ORPHA:79153
Ermine Phenotype
Toe syndactyly, Hypopigmentation of hair, Hypopigmented skin patches, Clinodactyly of the 5th fin... ORPHA:999
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Salt And Pepper Developmental Regression Syndrome
Hypermelanotic macule, Hyporeflexia of upper limbs, Abnormality of skin pigmentation OMIM:609056
Terminal Osseous Dysplasia
Brachydactyly, Abnormality of skin pigmentation, Toe clinodactyly, Mesomelic leg shortening, Meso... OMIM:300244
Klippel-Trénaunay Syndrome
Microcytic anemia, Cellulitis, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hem... ORPHA:90308
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized reticulate brown pigmentatio... ORPHA:158681
Muenke Syndrome
Hypopigmentation of hair, Carpal synostosis, Hypopigmented skin patches, Short palm, Cone-shaped ... ORPHA:53271
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Syndactyly OMIM:300801
Dentinogenesis Imperfecta
Bruising susceptibility, Odontodysplasia, Hypocalcification of dental enamel, Grayish enamel, Gen... ORPHA:49042
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines, Hip dislocation ORPHA:101003
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
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Macs Syndrome
Bruising susceptibility, Umbilical hernia, Decreased body weight, Prolonged bleeding time OMIM:613075
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Bazex Syndrome
Coarse hair, Pili torti, Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, ... OMIM:301845
Hereditary Bullous Dystrophy, Macular Type
Atrichia, Tapered finger, Nail dystrophy, Hyperpigmentation of the skin, Short finger, Alopecia, ... ORPHA:1867
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Narrow foramen obturatorium, Hypopigmented skin patches, Joint ... ORPHA:220402
Cronkhite-Canada Syndrome
Patchy alopecia, Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of th... ORPHA:2930
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, T... ORPHA:906
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Blue ... OMIM:614613
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Hernia, Femoral hernia, Inguinal hernia, Abnormality of subcutaneous fat tissue, S... ORPHA:1901
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Hypo... ORPHA:626
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Adult Syndrome
Toe syndactyly, Abnormality of the nail, Finger syndactyly, Absent nipple, Sparse scalp hair, Fin... ORPHA:978
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Palmoplantar hyperkerato... ORPHA:69087
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Lelis Syndrome
Sparse lateral eyebrow, Vitiligo, Palmoplantar hyperkeratosis, Perioral hyperpigmentation, Absent... ORPHA:140936
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation OMIM:611040
Wiskott-Aldrich Syndrome
Eosinophilia, Petechiae, Purpura, Gingival bleeding, Autoimmune hemolytic anemia, Decreased propo... OMIM:301000
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Wiskott-Aldrich Syndrome, Autosomal Dominant
Gingival bleeding, Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytop... OMIM:600903
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Splenomegaly, Hemolytic anemia, Prolonged bleeding time,... ORPHA:809
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Hermansky-Pudlak Syndrome 11
Fair hair, Albinism, Iris transillumination defect, Ocular albinism, Melanocytic nevus OMIM:619172
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Palmoplantar keratoderma, Abnormal h... ORPHA:1979
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Long toe, Sparse eyebrow, Arachnodactyly, Sparse eyelashes, Pal... ORPHA:75496
Adult Syndrome
Fair hair, Toe syndactyly, Absent nipple, Nail pits, Hypoplastic nipples, Freckling, Sparse axill... OMIM:103285
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
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
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Squalene Synthase Deficiency
Slender long bone, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmentation OMIM:618156
Cone-Rod Dystrophy 10
Abnormality of skin pigmentation OMIM:610283
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap, Abnormality of skin pigmentation ORPHA:2180
Acquired Von Willebrand Syndrome
Hypochromic anemia, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal h... ORPHA:99147
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Fine hair ORPHA:1806
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Prolonged prothrombin time, Intracranial hemorrhage, Internal ... ORPHA:49566
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Splenic rupture, Subcutaneous hemorrh... ORPHA:335
Porphyria
Abnormality of skin pigmentation, Dupuytren contracture ORPHA:738
Cohen Syndrome
Abnormal hip bone morphology, Abnormality of skin pigmentation, Finger syndactyly, Long eyelashes... ORPHA:193
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Congenital hip dislocation, Red hair OMIM:229200
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Thrombocytopenia, Anemia, Prolonged prothrombin time, Abn... ORPHA:91547
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Osteolytic defects of the distal phalanges of the hand, Sparse ... ORPHA:2457
Prader-Willi Syndrome Due To Translocation
Brachydactyly, Bilateral talipes equinovarus, Clinodactyly, Hypopigmentation of hair, Impaired so... ORPHA:177907
Incontinentia Pigmenti
Atrophic, patchy alopecia, Abnormality of skin pigmentation, Coarse hair, Supernumerary nipple, N... OMIM:308300
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Abnormality of the upper limb ORPHA:834
Incontinentia Pigmenti
Abnormality of the nail, Abnormality of skin pigmentation, Finger syndactyly, Hypopigmented skin ... ORPHA:464
Prader-Willi Syndrome
Clinodactyly, Hypopigmentation of hair, Acromicria, Short palm, Hypopigmentation of the skin, Nar... OMIM:176270
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Hepatoportal Sclerosis
Hypersplenism, Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia, P... ORPHA:64743
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Brittle hair, Coarse hair, Hyperpigmentation of the skin, Spars... ORPHA:50814
Chediak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Silver-gray hair, Ocular albinism, Giant ... OMIM:214500
Koolen-De Vries Syndrome
Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Overfriendliness, Hip disl... ORPHA:96169
Lamb-Shaffer Syndrome
Hip dysplasia, Abnormal social behavior ORPHA:530983
Cog8-Cdg
Failure to thrive, Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Brittle Cornea Syndrome
Abnormality of epiphysis morphology, Arachnodactyly, Hallux valgus, Camptodactyly, Hip dysplasia,... ORPHA:90354
Mend Syndrome
2-3 toe syndactyly, Abnormal social behavior, Overlapping fingers, Hand polydactyly, Broad hallux... ORPHA:401973
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Autosomal Recessive Faciodigitogenital Syndrome
Brachydactyly, Widow's peak, Hypopigmentation of hair, Finger syndactyly, Coarse hair, Clinodacty... ORPHA:1974
Bone Marrow Failure Syndrome 3
Small nail, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the eyebrow, Congenital hip d... OMIM:617052
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
48,Xxxy Syndrome
Coxa valga, Abnormality of epiphysis morphology, Abnormal social behavior, Clinodactyly of the 5t... ORPHA:96263
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Failure to thrive, Prolonged prothrombin time... OMIM:267700
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Ocular ... ORPHA:79430
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Failure to thrive, Prolonged prothrombin time, Thrombocytopenia OMIM:617941
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Bruising susceptibility, Ecchymosis, Uterine prolapse, Cigarette-paper scars, Ingu... ORPHA:287
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Failure to ... OMIM:603553
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Failure to thrive, Prolonged prothrombin time, Flexion contracture ORPHA:367
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Hemolytic anemia, Cerebral hemorrhage, Micro... ORPHA:244242
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Failure to thrive, Prolonged prothrombin time, Thrombocytopenia ORPHA:99901
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Thrombocytosis, Iron deficiency anemia, Failure to thrive, Macrocytic anemia, ... OMIM:212750
Fg Syndrome Type 1
Broad toe, Abnormal thumb morphology, Single transverse palmar crease, Finger syndactyly, Abnorma... ORPHA:93932
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Thrombocytosis, Abnormal subcutaneous fat tissue distribution, Failure to th... OMIM:212065
Fanconi Anemia, Complementation Group E
Absent thumb, Abnormality of skin pigmentation, Absent radius, Short thumb, Cafe-au-lait spot, Co... OMIM:600901
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Toe syndactyly, Abnormality of the nail, Abnormality of skin pig... ORPHA:2092
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Dubowitz Syndrome
Brachydactyly, Toe syndactyly, Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hy... ORPHA:235
Fanconi Anemia, Complementation Group A
Absent thumb, Abnormality of skin pigmentation, Absent radius, Short thumb, Cafe-au-lait spot, Co... OMIM:227650
Vici Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism OMIM:242840
Hennekam-Beemer Syndrome
Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Camptodactyly of finger, Irregu... ORPHA:2135
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Thrombocytopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic h... ORPHA:2330
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Hermansky-Pudlak Syndrome 8
Albinism, Ocular albinism OMIM:614077
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Thick eyebrow, Poor eye contact, Low anterior hairline, Synophrys ORPHA:411986
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Generalized hypopigmen... ORPHA:84064
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Abnormal thumb morphology, Arachnodactyly, Ocular albinism, Iris hypopi... ORPHA:2719
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Prolonged prothrombin time OMIM:617049
Ablepharon Macrostomia Syndrome
Toe syndactyly, Abnormality of skin pigmentation, Absent eyelashes, Abnormal hair pattern, Fine h... ORPHA:920
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Frontal balding, Lip hyperpigmentation, Fine hair ORPHA:139399
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Blue ... ORPHA:280651
Fanconi Anemia, Complementation Group D2
Absent thumb, Abnormality of skin pigmentation, Absent radius, Partial duplication of thumb phala... OMIM:227646
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Hand muscle atrophy, Calcaneovalgus deformity, Abnormal social behavior, Vitiligo, Hyp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Hand muscle atrophy, Calcaneovalgus deformity, Abnormal social behavior, Vitiligo, Hyp... ORPHA:363958
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Thrombocytosis, Anemia, Prolonged prothrombin time, Weight loss ORPHA:20
Monosomy 13Q34
Prolonged prothrombin time, Hematochezia, Obesity, Epistaxis ORPHA:96168
Alg12-Cdg
Abnormal adipose tissue morphology, Failure to thrive, B lymphocytopenia, Camptodactyly, Prolonge... ORPHA:79324
Isolated Biliary Atresia
Small for gestational age, Splenomegaly, Severe failure to thrive, Failure to thrive, Prolonged p... ORPHA:30391
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Splenomegaly OMIM:618641
Dihydropyrimidine Dehydrogenase Deficiency
Long eyelashes, Abnormal social behavior, Micromelia, Deep palmar crease, Short nail, Epiphyseal ... ORPHA:1675
Mastocytosis
Abnormality of skin pigmentation ORPHA:98292
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Failure to thrive, Prolonged prothrombin time, Small for gestational... OMIM:619055
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Alkaptonuria
Irregular hyperpigmentation, Abnormality of skin pigmentation, Abnormality of the nail ORPHA:56
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Prolonged prothrombin time ORPHA:88618
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Ring Chromosome 13 Syndrome
Abnormality of skin pigmentation, Aplasia/Hypoplasia of the thumb, Partial absence of foot, Alope... ORPHA:96176
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Ring Chromosome 7 Syndrome
Slender finger, Abnormality of skin pigmentation, Single transverse palmar crease, Hyperpigmented... ORPHA:1449
Proteus Syndrome
Generalized hirsutism, Central heterochromia, Abnormality of the nail, Abnormality of skin pigmen... ORPHA:744
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Prolonged prothrombin time ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Prolonged prothrombin time OMIM:618329
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Palmoplantar keratoderma, Short 5th metacarpal, Finger syndacty... ORPHA:2908
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Abetalipoproteinemia
Acanthocytosis, Anemia, Failure to thrive, Reticulocytosis, Prolonged prothrombin time, Abnormal ... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Inguinal hernia, Anemia, Failure to thrive, Bleeding with minor ... OMIM:619525
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Corneal scarring, Small for gestational age, Splenomegaly, Limb join... ORPHA:404454
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Leukopenia, Abnormal lymphocyte m... ORPHA:99826
Tuberous Sclerosis Complex
Abnormal social behavior, Ungual fibroma, Hypomelanotic macule ORPHA:805
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Gastrointestinal hemorrhage, Failure to thrive in infancy, Anemia, Prolonged ... ORPHA:247598
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia, Excessive bleeding after a venipuncture, Hematemesi... ORPHA:99829
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Splenomegaly, Polycythemia ORPHA:309854
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Prolonged prothrombin time, Splenomegaly, Weight loss ORPHA:171
Acute Liver Failure
Bruising susceptibility, Gastrointestinal hemorrhage, Thrombocytopenia, Abnormal bleeding, Prolon... ORPHA:90062
Williams Syndrome
Abnormality of pelvic girdle bone morphology, Hypoplastic toenails, Abnormal social behavior, Cli... 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
Thick eyebrow, Low anterior hairline 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

Order Mouse and ES Cells

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

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

MGI Allele Allele Type Produced
Dock7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dock7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dock7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter