banner
Genes Phenotypes Help, News, Blog

Gene: Gnaq MGI:95776

Log in to follow
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

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 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
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation 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, Impaired ADP-induced platelet aggregation, Impair... 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, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... ORPHA:42665
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp... 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, Throm... OMIM:615193
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, White forelock, Abnormal met... 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
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin 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
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Bullous Dystrophy, Hereditary Macular Type
Short finger, Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail, Tapered f... OMIM:302000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation ORPHA:2222
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Generalized hyperpigmentation ORPHA:2297
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ... OMIM:227010
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Tietz Albinism-Deafness Syndrome
Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes... OMIM:103500
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo... OMIM:601706
Hidrotic Ectodermal Dysplasia
Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha... ORPHA:189
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... ORPHA:2251
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613265
Waardenburg Syndrome, Type 2B
Heterochromia iridis, Sensorineural hearing impairment, White forelock, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... OMIM:155100
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori... 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
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ... ORPHA:998
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest 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
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment OMIM:300650
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... ORPHA:2513
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation 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
Gait disturbance, Ataxia, Unsteady gait, Decreased circulating antibody level, Abnormal platelet ... ORPHA:2585
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... ORPHA:2885
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... ORPHA:895
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... ORPHA:1818
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Abnormal fingernail mo... ORPHA:89838
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis OMIM:277740
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia... ORPHA:79402
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... OMIM:139090
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Short distal phalanx of finger, Brachytelomesophalangy, Freckling ORPHA:1547
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... OMIM:601399
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails ORPHA:700
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Abnormal limb bone morphology, Freckling, Brittle hair,... ORPHA:1573
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region ORPHA:79411
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... 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
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation OMIM:613216
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypopigmentation of... ORPHA:177910
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Sen... ORPHA:3437
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:277580
Darier Disease
Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormali... ORPHA:218
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Essential Thrombocythemia
Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Paresthesia, Abnormal pl... ORPHA:3318
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Albinism-Deafness Syndrome
Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini... OMIM:300700
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation OMIM:225050
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... OMIM:153670
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m... OMIM:601957
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash... OMIM:129500
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... ORPHA:79414
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Premature graying of body hair, Vitiligo, Scapular winging, Hyperpigmentatio... OMIM:270750
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Arterial Dissection-Lentiginosis Syndrome
Melanocytic nevus ORPHA:1682
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Toe syndactyly, Hypopigmented skin patches, O... ORPHA:999
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Piebaldism
Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr... ORPHA:2884
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
Waardenburg Syndrome, Type 3
Joint contracture of the hand, Hypopigmented skin patches, Clinodactyly, Premature graying of hai... OMIM:148820
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Legius Syndrome
Low-set ears, Inguinal freckling, Low posterior hairline, Posteriorly rotated ears, Freckling, Ax... 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, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... ORPHA:903
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Terminal Osseous Dysplasia
Low-set ears, Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg s... OMIM:300244
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Waardenburg-Shah Syndrome
Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnor... 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
Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Frec... OMIM:618373
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Alopecia Universalis
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... ORPHA:701
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Acral Peeling Skin Syndrome
Hyperpigmentation of the skin, Excessive wrinkling of palmar skin ORPHA:263534
Familial Melanoma
Abnormal hair morphology, Freckling ORPHA:618
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear... ORPHA:894
Dyskeratosis Congenita, Autosomal Recessive 3
Nail dystrophy, Abnormality of skin pigmentation OMIM:613988
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
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
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Short finger, Nail dystrophy, Spotty hypopigmentation, Tapered finger, Hyperp... ORPHA:1867
Muenke Syndrome
Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Sensorineural hearing impairmen... ORPHA:53271
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Hyperpigmentation of the skin, Pili torti, Sparse hair, Tricho... OMIM:301845
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... ORPHA:2930
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Thrombocytopenia, Intracranial hemorrhage, ... ORPHA:3226
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Sensorineural hearing impairment, Hyperpigment... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Single transverse palm... OMIM:618541
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Spastic paraplegia, Abnormality of neutrophil physiology, Abnormal ... ORPHA:167
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine hair, Finger syndactyly, Breast ... ORPHA:978
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Cranio-Osteoarthropathy
Abnormal tibia morphology, Mottled pigmentation, Deviation of finger, Clubbing of toes ORPHA:1525
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613266
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Abnormality of skin pigmentation ORPHA:457260
Waardenburg Syndrome
Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ... ORPHA:3440
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:50815
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... ORPHA:324636
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Neurofibromatosis, Familial Spinal
Cafe-au-lait spot, Freckling OMIM:162210
Sitosterolemia 1
Giant platelets, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap... OMIM:611584
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin, Large hands OMIM:606764
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... ORPHA:906
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Giant melanosomes in melanocytes, Freckling, Ocular albinism ORPHA:54
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Abnormality of ski... ORPHA:1979
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski... ORPHA:1806
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation ORPHA:79329
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Sparse eyelashes, Arachnodactyly, Long toe, Abnormality of skin pigmentation, Pal... ORPHA:75496
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of the upper limb, Abnormality of skin pigmentation ORPHA:834
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Sandal gap, Brachydactyly, Abnormality of skin pigmentation ORPHA:2180
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Adult Syndrome
Absent nipple, Toe syndactyly, Fair hair, Breast hypoplasia, Alopecia of scalp, Split foot, Spars... OMIM:103285
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Nail dystrophy OMIM:613987
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased specific anti-polysacchar... OMIM:301000
Cog8-Cdg
Prolonged prothrombin time, Myoclonus, Spontaneous hematomas, Ataxia ORPHA:95428
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Pseudohypoparathyroidism Type 1A
Involuntary movements, Paresthesia, Myoclonic spasms, Abnormal platelet function, Choreoathetosis ORPHA:79443
Squalene Synthase Deficiency
Low-set ears, Elbow flexion contracture, Abnormality of hair pigmentation, 2-3 toe syndactyly, Po... OMIM:618156
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Long eyelashes, Thick eyebrow,... ORPHA:193
Dyskeratosis Congenita, Digenic
Alopecia, Nail dystrophy, Sparse eyelashes, Abnormal palmar dermatoglyphics, Abnormality of skin ... OMIM:620040
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Abnormal bleeding, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Prolonged... OMIM:616271
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventr... OMIM:619055
Mandibuloacral Dysplasia
Alopecia, Hypoplastic fingernail, Acroosteolysis of distal phalanges (feet), Abnormality of skin ... ORPHA:2457
Familial Multiple Nevi Flammei
Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the upper limb ORPHA:624
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Incontinentia Pigmenti
Alopecia, Irregular hyperpigmentation, Ridged fingernail, Hypopigmented skin patches, Dystrophic ... ORPHA:464
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... ORPHA:49566
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Prolonged pro... ORPHA:309854
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Camptodactyly of ... ORPHA:2135
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Thrombocytosis, Myoclonus, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Prol... ORPHA:20
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function, Bruising susceptibility ORPHA:648
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Abnormal antihelix morphology, Aplas... ORPHA:235
Abetalipoproteinemia
Ataxia, Impaired vibratory sensation, Broad-based gait, Abnormal bleeding, Positive Romberg sign,... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Death in childh... OMIM:212065
Ablepharon Macrostomia Syndrome
Toe syndactyly, Hearing impairment, Fine hair, Atresia of the external auditory canal, Camptodact... ORPHA:920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Hemiplegia, Tetraplegia, Hypertonia, Prolonged prothrombin time, Thrombocytopenia OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Multifocal epileptiform discharges, Prolonged prothrombin time OMIM:614300
Acquired Von Willebrand Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... ORPHA:99147
Fanconi Anemia, Complementation Group A
Absent thumb, Hearing impairment, Short thumb, Abnormality of skin pigmentation, Absent radius, C... OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Hemiplegia, Tetraplegia, Hypertonia, Prolonged prothrombin time, Reduced natural killer c... OMIM:603553
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Fatigable weakness, Prolonged prothrombin time ORPHA:99901
3Q29 Microdeletion Syndrome
Low-set ears, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Macrotia, Tapered... ORPHA:65286
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Death in infancy, Prolonged prothrombin time OMIM:613070
Focal Dermal Hypoplasia
Low-set ears, Alopecia, Toe syndactyly, Coarse metaphyseal trabecularization, Hearing impairment,... ORPHA:2092
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Fatigable weakness of speech muscles, Inability to walk, Chorea, Myoclonus, Action tremor, Hyperk... ORPHA:404454
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Brittle Cornea Syndrome
Conductive hearing impairment, Abnormality of hair pigmentation, Sensorineural hearing impairment... ORPHA:90354
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Episodic ataxia, Ataxia OMIM:311250
Relapsing Fever
Epistaxis, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time ORPHA:91547
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired platelet aggregation,... ORPHA:2968
Infantile Liver Failure Syndrome 3
Death in childhood, Prolonged prothrombin time OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Prolonged prothrombin time OMIM:617049
Sialuria
Hyperkinetic movements, Prolonged prothrombin time ORPHA:3166
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Fine hair, Frontal balding, Lip hyperpigmentation ORPHA:139399
Ring Chromosome 7 Syndrome
Short 5th finger, Highly arched eyebrow, Small hand, Slender finger, Prominent crus of helix, 3-4... ORPHA:1449
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Thrombocytosis, Prolonged prothrombin time, Ataxia OMIM:212750
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time ORPHA:64743
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Fanconi Anemia, Complementation Group D2
Low-set ears, Absent thumb, Hearing impairment, Short thumb, Preaxial hand polydactyly, Partial d... OMIM:227646
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Ring Chromosome 13 Syndrome
Alopecia, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Partia... ORPHA:96176
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Degcags Syndrome
Low-set ears, Toe syndactyly, Hearing impairment, Premature graying of hair, Genu valgum, Unilate... OMIM:619488
Shwachman-Diamond Syndrome 2
Death in infancy, Thrombocytopenia, Death in childhood, Prolonged prothrombin time 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
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 37
Spasticity, Prolonged prothrombin time OMIM:618329
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Abnor... ORPHA:2908
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Acute Liver Failure
Pain insensitivity, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Inco... ORPHA:90062
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Proteus Syndrome
Low-set ears, Finger syndactyly, Generalized hirsutism, Abnormal metacarpal morphology, Abnormal ... ORPHA:744
Hellp Syndrome
Thrombocytopenia, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Gardner Syndrome
Pilomatrixoma, Abnormality of skin pigmentation 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
Abnormal bleeding, Bruising susceptibility, Excessive bleeding after a venipuncture, Petechiae, I... ORPHA:99826
Kasabach-Merritt Phenomenon
Thrombocytopenia, Purpura, Petechiae, Prolonged prothrombin time ORPHA:2330
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Periodic paralysis, Prolonged prothrombin time, Melena OMIM:276700
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... ORPHA:247598
Yellow Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Internal hemorrhage, Pro... ORPHA:99829
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Prolonged prothrombin time ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Bleeding with minor or no trauma, Thrombocytopenia, Prolonged prothrombin time 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

The IMPC Newsletter

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

Subscribe to newsletter