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Gene: Dock7 MGI:1914549

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

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 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
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Thick eyebrow OMIM:615859
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Synophrys, Long eyelashes, Low anterior hairline, Thick eyebrow ORPHA:411986

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
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Book Syndrome
Premature graying of hair OMIM:112300
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, W... ORPHA:2779
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
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
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
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 hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... 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
Abnormal social behavior, Cafe-au-lait spot ORPHA:436151
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Tapered finger, Short finger, Abnormality of the nail, Hyperpigmentation of the... OMIM:302000
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail d... OMIM:131960
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Ri... ORPHA:2251
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis OMIM:277740
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Dystrophic toenail, Pal... ORPHA:89838
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista... ORPHA:2513
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo... ORPHA:177910
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin ORPHA:46487
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... ORPHA:79402
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
11Q22.2Q22.3 Microdeletion Syndrome
Thick eyebrow, Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly o... ORPHA:444002
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Melanocytic nevus, Fine hair, Fre... ORPHA:1573
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Aland Island Eye Disease
Albinism OMIM:300600
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Freckling, Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Single transverse palma... OMIM:601957
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... ORPHA:411515
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp... OMIM:104100
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Waardenburg Syndrome, Type 3
Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmente... OMIM:148820
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Palmoplantar k... ORPHA:218
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Abnormality of the hand, Slow-growing... OMIM:129500
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty... ORPHA:999
Spastic Paraplegia 23, Autosomal Recessive
Scapular winging, Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-e... OMIM:270750
Obesity And Hypopigmentation
Red hair OMIM:620195
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Cellulitis, Internal hem... ORPHA:90308
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
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
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hypopigmented skin patches, C... ORPHA:53271
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hy... ORPHA:158681
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Dentinogenesis Imperfecta
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Grayish enamel... ORPHA:49042
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
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
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Hip dislocation, Vitiligo ORPHA:101003
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Tapered finger, Spotty hypopigmentation, Atrichia, Sh... ORPHA:1867
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Tapered finger, Hypoplas... ORPHA:2930
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Joint contracture of the hand, Narrow foramen obturatorium, Hyp... ORPHA:220402
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Blue irides, Short metatarsal, Advanced ossification of carpal bones, Cone-shap... OMIM:614613
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Nail dystrophy, ... OMIM:618373
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue,... ORPHA:1901
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ... OMIM:301845
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Single transverse palm... OMIM:618541
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli... ORPHA:69087
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,... ORPHA:978
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na... ORPHA:140936
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Palmoplantar keratoderma, ... ORPHA:79411
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... ORPHA:411511
Abcd Syndrome
White eyelashes, White eyebrow, Albinism OMIM:600501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility, Umbilical hernia, Decreased body weight OMIM:613075
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility, Small for gestational age OMIM:616229
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... ORPHA:809
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair, Palmoplant... ORPHA:1979
Adult Syndrome
Sparse scalp hair, Toe syndactyly, Absent nipple, Sparse axillary hair, Split hand, Nail pits, Al... OMIM:103285
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Arachnodactyly, Sparse eyelashes, Sparse eyebrow, Palmoplantar cutis... ORPHA:75496
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... ORPHA:98794
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Abnormality of the upper limb, Iris hypopigmentation ORPHA:834
Squalene Synthase Deficiency
Slender long bone, Elbow flexion contracture, Abnormality of hair pigmentation, 2-3 toe syndactyly OMIM:618156
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Sandal gap, Brachydactyly ORPHA:2180
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Brachydactyly, Overlapping toe, Small hand, Short foot, Abnormal social... ORPHA:177907
Cohen Syndrome
Abnormality of retinal pigmentation, Finger syndactyly, Arachnodactyly, Sandal gap, Thick hair, T... ORPHA:193
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... ORPHA:335
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Brittle Cornea Syndrome 1
Red hair, Congenital hip dislocation, Palmoplantar cutis laxa OMIM:229200
Mandibuloacral Dysplasia
Alopecia, Abnormality of skin pigmentation, Osteolytic defects of the distal phalanges of the han... ORPHA:2457
Gastrointestinal Stromal Tumor
Large hands, Hyperpigmentation of the skin OMIM:606764
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... OMIM:308300
Incontinentia Pigmenti
Finger syndactyly, Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Camptodactyl... ORPHA:464
Craniolenticulosutural Dysplasia
Brittle hair, High iliac wing, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperp... ORPHA:50814
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Lamb-Shaffer Syndrome
Hip dysplasia, Abnormal social behavior ORPHA:530983
Mend Syndrome
Broad hallux, Overlapping toe, Long fingers, Spotty hypopigmentation, 2-3 toe syndactyly, Hand po... ORPHA:401973
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Na... OMIM:620040
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Failure to thrive ORPHA:95428
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Hip dysplasia, Abnormal epiphysi... ORPHA:90354
Prader-Willi Syndrome
Syndactyly, Hypopigmentation of hair, Acromicria, Small hand, Narrow palm, Genu valgum, Short foo... OMIM:176270
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Koolen-De Vries Syndrome
Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Hip dislocation, Overfrien... ORPHA:96169
48,Xxxy Syndrome
Down-sloping shoulders, Coxa valga, Elbow dislocation, Hip dislocation, Radioulnar synostosis, Ta... ORPHA:96263
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Hypopigmentation of hair, Dry hair, Down-sloping shoulders, Widow's peak, Shor... ORPHA:1974
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... ORPHA:244242
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosi... OMIM:212750
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Failure to thrive... OMIM:267700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Prolonged prothrombin time, Flexion contracture, Hepatosplenomegaly ORPHA:367
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars... ORPHA:287
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time, Failure to thrive OMIM:214950
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Failure to thrive, Prolonged prothrombin time ORPHA:99901
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Sparse scalp hair, Toe syndactyly, Sandal gap, Abnormal fingerna... ORPHA:235
Focal Dermal Hypoplasia
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of fi... ORPHA:2092
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:617941
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmentation, Complete duplication ... OMIM:227650
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Camptodactyly of finger, Abnormality of skin pigmentation, Clinoda... ORPHA:2135
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Flexion contracture, Leukopenia, Prolonged prothrombin time, Neutropenia, Thro... OMIM:616271
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time, Failure to thrive OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Failure to thrive OMIM:617049
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Failure to thrive OMIM:614300
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Overfriendliness, Anomaly of lower limb diaphyses, Alopecia, Arachnodactyly,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Overfriendliness, Anomaly of lower limb diaphyses, Alopecia, Arachnodactyly,... ORPHA:363958
Ablepharon Macrostomia Syndrome
Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes,... ORPHA:920
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... ORPHA:84064
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Ocular albinism, Iris hypopi... ORPHA:2719
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Prolonged prothrombin time, T... OMIM:212065
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Congenital diaphragmatic hernia OMIM:618280
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb... OMIM:227646
Alg12-Cdg
Prolonged prothrombin time, Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly,... ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Weight loss, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Hyperpigmented nevi, Highly arched eyebrow, Small hand, Low ante... ORPHA:1449
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Short nail, Micromelia, Deep palmar crease, Long eyelashes, Abnormal social... ORPHA:1675
Isolated Biliary Atresia
Small for gestational age, Splenomegaly, Prolonged prothrombin time, Severe failure to thrive, Fa... ORPHA:30391
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Obesity ORPHA:96168
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Failure to thrive, Small for gestational... OMIM:619055
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Failure to thrive ORPHA:88618
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Aplasia/hypoplasia involving bones of the hand, Absent... ORPHA:96176
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time, Failure to thrive OMIM:618329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Failure to thrive ORPHA:71212
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Proteus Syndrome
Hallux valgus, Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigme... ORPHA:744
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Palmoplantar kerato... ORPHA:2908
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Failure to thrive,... OMIM:276700
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Failure to thrive... ORPHA:14
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Failure to thrive OMIM:311250
Tuberous Sclerosis Complex
Ungual fibroma, Abnormal social behavior, Hypomelanotic macule ORPHA:805
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Splenomegaly, Achilles tendon contracture, Cor... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding wi... OMIM:619525
Vici Syndrome
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism OMIM:242840
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Failure to thrive in infancy, Hepatosplenomegaly,... ORPHA:247598
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Marburg Hemorrhagic Fever
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... ORPHA:99826
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Prolonged prothrom... ORPHA:171
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Yellow Fever
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... ORPHA:99829
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Williams Syndrome
Hallux valgus, Overfriendliness, Abnormal fingernail morphology, Down-sloping shoulders, Hypoplas... 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
Double eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Thick eyebrow OMIM:615859
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Synophrys, Long eyelashes, Low anterior hairline, Thick eyebrow ORPHA:411986

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

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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

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