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Gene: Gnaq MGI:95776

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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:
guanine nucleotide binding protein, alpha q polypeptide
Synonyms:
Dsk1,  Galphaq,  Gq,  G alpha q,  1110005L02Rik,  Dsk10,  GqI,  6230401I02Rik

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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 Gnaq 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 Gnaq by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Multiple Nevi Flammei
Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the upper limb ORPHA:624
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Sturge-Weber Syndrome
Heterochromia iridis ORPHA:3205
Sturge-Weber Syndrome
OMIM:185300
Capillary Malformations, Congenital
OMIM:163000

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Dowling-Degos Disease 3
Palmar pits, Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
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
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Dyschromatosis Universalis Hereditaria 3
Hypermelanotic macule OMIM:615402
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... OMIM:619267
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Osteopathia striata, White foreloc... ORPHA:2779
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:615888
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Glanzmann Thrombasthenia 1
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr... OMIM:187800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Bullous Dystrophy, Hereditary Macular Type
Short finger, Hyperpigmentation of the skin, Abnormality of the nail, Alopecia totalis, Tapered f... OMIM:302000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Alopecia, Mixed hypo... ORPHA:79397
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... OMIM:601706
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Palmoplantar keratoderma, Triphalangeal thumb, Hyperpigmentation of t... ORPHA:2251
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613265
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet... OMIM:155100
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Piebald Trait With Neurologic Defects
Hearing impairment, Absent pigmentation of the ventral chest, White forelock OMIM:172850
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment OMIM:300650
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo... ORPHA:2513
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Gait disturbance, Unsteady gait... ORPHA:2585
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:2885
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he... ORPHA:895
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocytic nevus, Ap... ORPHA:1818
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Epidermolysis Bullosa Acquisita
Nail dystrophy, Abnormal hair morphology, Hyperpigmentation of the skin ORPHA:46487
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
White Forelock With Malformations
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis OMIM:277740
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Freckling, Hypoplastic toenails ORPHA:1547
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ... OMIM:601399
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Pili torti, Freckling, Abnormal li... ORPHA:1573
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar... ORPHA:177910
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Abnormal... ORPHA:3437
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:277580
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig... ORPHA:218
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Essential Thrombocythemia
Abnormal bleeding, Thrombocytosis, Abnormal platelet morphology, Bruising susceptibility, Prolong... ORPHA:3318
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impaired collagen-rela... OMIM:153670
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal... OMIM:601957
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopenia, Epi... OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Clouston Syndrome
Nail dysplasia, Abnormality of the hand, Nail dystrophy, Hyperpigmentation of the skin, Small nai... OMIM:129500
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Enlarged vestibular aqueduct, Congenital pos... ORPHA:79414
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Premature graying of body hair, Scapular winging, Vitiligo, Hyperpigmentatio... OMIM:270750
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Deafness, Congenital, With Vitiligo And Achalasia
Hearing impairment, Vitiligo OMIM:221350
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm... ORPHA:999
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Menorrhagia, B... ORPHA:182050
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia, Macrothrombocytopenia, Pulmonary he... OMIM:603585
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Scapular... OMIM:148820
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Legius Syndrome
Inguinal freckling, Low-set ears, Low posterior hairline, Cafe-au-lait spot, Posteriorly rotated ... OMIM:611431
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p... OMIM:614074
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Low-set ears, Camptodactyly of toe, Ab... OMIM:300244
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, Hearing impairment, White foreloc... ORPHA:897
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Obesity And Hypopigmentation
Red hair OMIM:620195
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Alopecia of scalp, Nail dystrophy, Alopecia, Palmoplantar keratoderma, Fre... OMIM:618373
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un... ORPHA:701
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g... ORPHA:626
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Hyperpigmentation of the skin ORPHA:263534
Familial Melanoma
Freckling, Abnormal hair morphology ORPHA:618
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Autosomal Recessive Spastic Paraplegia Type 23
Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
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
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper... ORPHA:140936
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation, Joint contracture of the hand ORPHA:220402
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Hereditary Bullous Dystrophy, Macular Type
Short finger, Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Congenital abnor... ORPHA:1867
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, S... ORPHA:53271
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, Sparse hair, Pili torti, ... OMIM:301845
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A... ORPHA:2930
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Bruising susceptibility, Intracranial hemorrhage, ... ORPHA:3226
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Death in childhood, Epidural hemorrhage, Gingival bleeding, Death... OMIM:202400
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Single transverse palmar crease, Hypopigmentation of the skin, Hypopigmentatio... OMIM:618541
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Subungual hyperkeratosis, Decreased number of sweat glands, Dystrophic toenail, H... ORPHA:69087
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Sensorineura... ORPHA:3214
Chédiak-Higashi Syndrome
Abnormal bleeding, Decreased nerve conduction velocity, Increased proportion of CD25+ mast cells,... ORPHA:167
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Neurogenic bladder, Impaired ADP-induced platelet aggregation, Im... OMIM:614075
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Finger syndactyly, Abnormality of the nail, Hypoplastic nip... ORPHA:978
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Cranio-Osteoarthropathy
Deviation of finger, Mottled pigmentation, Abnormal tibia morphology, Clubbing of toes ORPHA:1525
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613266
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Abnormality of skin pigmentation ORPHA:457260
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint... ORPHA:324636
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Sitosterolemia 1
Impaired platelet aggregation, Thrombocytopenia, Giant platelets OMIM:210250
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Blue irides, Sensorineural hearing impairm... OMIM:611584
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla... OMIM:608233
Gastrointestinal Stromal Tumor
Large hands, Hyperpigmentation of the skin OMIM:606764
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Abnormal platelet function, Gingival blee... ORPHA:906
X-Linked Recessive Ocular Albinism
Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Ocular albinism ORPHA:54
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Abnormality of the upper limb, Abnormality o... ORPHA:1979
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair... ORPHA:1806
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody level ORPHA:79329
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Sparse scalp hair, Sparse eyelashes, Abnormality of skin pigmentation,... ORPHA:75496
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Abnormality of the upper limb ORPHA:834
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Brachydactyly, Low-set ears, Sandal gap ORPHA:2180
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Split hand, Sparse scalp hair, Absent ... OMIM:103285
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Reticulated skin pigmentation OMIM:613987
Mixed Connective Tissue Disease
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura ORPHA:809
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Low-set ears, Hypertrichosis OMIM:612379
Wiskott-Aldrich Syndrome
Hematemesis, Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensiti... OMIM:301000
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Ataxia, Myoclonus ORPHA:95428
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Involuntary movements, Myoclonic spasms, Choreoathetosis, Paresthesia ORPHA:79443
Squalene Synthase Deficiency
2-3 toe syndactyly, Elbow flexion contracture, Low-set ears, Abnormality of hair pigmentation, Ma... OMIM:618156
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Cohen Syndrome
Genu valgum, Cubitus valgus, Clinodactyly of the 5th finger, Sandal gap, Thick hair, Aplasia/Hypo... ORPHA:193
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Hyperkinetic movements, Spasticity, Tremor, Thromb... OMIM:616271
Dyskeratosis Congenita, Digenic
Nail dystrophy, Sparse eyelashes, Abnormality of skin pigmentation, Abnormal palmar dermatoglyphi... OMIM:620040
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Death in childhood, Death in adolescence, Clonus, Death in infancy, N... OMIM:619055
Mandibuloacral Dysplasia
Hypoplastic fingernail, Osteolytic defects of the distal phalanges of the hand, Abnormality of sk... ORPHA:2457
Familial Multiple Nevi Flammei
Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the upper limb ORPHA:624
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Craniolenticulosutural Dysplasia
Brittle hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Sparse hair, Coars... ORPHA:50814
Incontinentia Pigmenti
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Abnormal hair mo... ORPHA:464
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Poor fi... ORPHA:309854
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Clinodactyly of the 5th finger, Microtia, Hearing impairment, Abnorm... ORPHA:2135
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Spastic hemiparesis, Hypsarrhythmia, Spasticity, Ataxia, Myoclonus, E... ORPHA:20
Noonan Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function ORPHA:648
Dubowitz Syndrome
Sandal gap, Broad thumb, Abnormality of thumb phalanx, Fine hair, Low-set, posteriorly rotated ea... ORPHA:235
Abetalipoproteinemia
Prolonged prothrombin time, Babinski sign, Impaired proprioception, Steppage gait, Abnormal bleed... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Death in childhood, Tremor, Intention tremor, Death in infancy, Decre... OMIM:212065
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Microtia, Absent eyelashes, Absent eyebrow, Hearing impairment, Abnormality of... ORPHA:920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hypertonia, Tetraplegia, Thrombocytopenia, Ataxia, Hemiplegia OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Multifocal epileptiform discharges OMIM:614300
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Menorrhagia, Joint hemorrhage, E... ORPHA:99147
Fanconi Anemia, Complementation Group A
Hearing impairment, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete duplication of ... OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Hypertonia, Tetraplegia, Ataxia, Thrombocytopenia, Hemiplegia, Reduce... OMIM:603553
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia, Fatigable weakness ORPHA:99901
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Low-set ears, Abnormality of skin pigmentation, Macrotia, Tapered... ORPHA:65286
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level, Death in infancy OMIM:613070
Focal Dermal Hypoplasia
Finger syndactyly, Abnormality of the nail, Low-set ears, Split hand, Hearing impairment, Abnorma... ORPHA:2092
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Hyperkinetic movements, Inability to walk, Oculomotor apraxia, Chorea... ORPHA:404454
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Brittle Cornea Syndrome
Sensorineural hearing impairment, Abnormality of hair pigmentation, Camptodactyly, Conductive hea... ORPHA:90354
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Ataxia, Episodic ataxia OMIM:311250
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia, Epistaxis ORPHA:91547
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Abnormality of neutrophil physiology, Bone marrow hypocellularity,... ORPHA:2968
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Death in childhood OMIM:618641
Sialuria
Prolonged prothrombin time, Hyperkinetic movements ORPHA:3166
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Death in infancy OMIM:617049
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Fine hair, Lip hyperpigmentation, Frontal balding ORPHA:139399
Ring Chromosome 7 Syndrome
Genu valgum, Clinodactyly of the 5th finger, Hyperpigmented nevi, Small hand, Small earlobe, Sing... ORPHA:1449
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Thrombocytosis, Ataxia, Decreased circulating IgA level OMIM:212750
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia, Abnormal bleeding ORPHA:64743
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Fanconi Anemia, Complementation Group D2
Low-set ears, Hearing impairment, Abnormality of skin pigmentation, Cafe-au-lait spot, Aplasia of... OMIM:227646
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Absent foot, Caf... ORPHA:96176
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia OMIM:214950
Degcags Syndrome
Premature graying of hair, Sensorineural hearing impairment, Hypopigmentation of the skin, Low po... OMIM:619488
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Death in childhood, Thrombocytopenia, Death in infancy OMIM:617941
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Hematochezia ORPHA:96168
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time, Spasticity OMIM:618329
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentatio... ORPHA:2908
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hematochezia OMIM:613812
Alg12-Cdg
Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz... ORPHA:79324
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Incoordination, Throm... ORPHA:90062
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Proteus Syndrome
Irregular hyperpigmentation, Macrodactyly, Abnormal finger morphology, Upper limb asymmetry, Gene... ORPHA:744
Hellp Syndrome
Prolonged prothrombin time, Thrombocytopenia, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Gardner Syndrome
Abnormality of skin pigmentation, Pilomatrixoma ORPHA:79665
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, D... ORPHA:99826
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Petechiae, Thrombocytopenia, Purpura ORPHA:2330
Tyrosinemia, Type I
Prolonged prothrombin time, Periodic paralysis, Melena, Gastrointestinal hemorrhage OMIM:276700
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating antibody level, Ab... ORPHA:247598
Yellow Fever
Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Internal hemorrhage, Increased circul... ORPHA:99829
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma, Thrombocytopenia OMIM:619525
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Sturge-Weber Syndrome
Heterochromia iridis ORPHA:3205
Capillary Malformations, Congenital
OMIM:163000
Sturge-Weber Syndrome
OMIM:185300

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 Gnaq

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 Gnaq.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gnaqtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnaqtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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