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Gene: Tmem163 MGI:1919410

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Gene Summary

Name:
transmembrane protein 163
Synonyms:
2610024A01Rik,  SV31

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
eye hemorrhage Tmem163em1(IMPC)Mbp HOM Early adult 1.71×10-05
small kidney Tmem163em1(IMPC)Mbp HOM Early adult 0.00
decreased bone mineral content Tmem163em1(IMPC)Kmpc HOM Early adult 1.45×10-15
decreased lean body mass Tmem163em1(IMPC)Kmpc HOM Early adult 3.85×10-06
abnormal bone structure Tmem163em1(IMPC)Kmpc HOM Early adult 6.82×10-06
abnormal coat/hair pigmentation Tmem163em1(IMPC)Kmpc HOM Early adult 9.53×10-05
decreased bone mineral density Tmem163em1(IMPC)Kmpc HOM Early adult 4.61×10-12
increased total body fat amount Tmem163em1(IMPC)Kmpc HOM Early adult 5.64×10-07
increased circulating insulin level Tmem163em1(IMPC)Mbp HOM Early adult 3.18×10-14
abnormal skin morphology Tmem163em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Tmem163em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Tmem163 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 Tmem163 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 25
OMIM:620243

The table below shows human diseases predicted to be associated to Tmem163 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Osteopenia And Sparse Hair
Osteopenia, Sparse hair, Joint hypermobility OMIM:259690
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... ORPHA:182050
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt... ORPHA:3318
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypertension ORPHA:79084
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Insulin-resistant diabetes mellitus at puberty, Abnormal circulat... ORPHA:280356
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno... ORPHA:324636
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu... OMIM:611773
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Wiskott-Aldrich Syndrome
Gingival bleeding, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hy... OMIM:301000
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Multiple renal cysts, Subconju... ORPHA:464329
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Protei... ORPHA:263455
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... OMIM:203300
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Perlman Syndrome
Hypoplasia of penis, Hyperinsulinemia ORPHA:2849
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hematuria, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch bl... ORPHA:99827
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto... ORPHA:79329
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Excessive bleeding after a venipuncture, Ecchy... ORPHA:319213
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertension ORPHA:363400
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Prolonged bleed... ORPHA:809
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Hemophagoc... ORPHA:167
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Nephritis, Insulin resistance, Glycosuria, Insulin-resistant diabetes... ORPHA:2298
Mpi-Cdg
Gastrointestinal hemorrhage, Hypothyroidism, Portal hypertension, Hyperinsulinemic hypoglycemia ORPHA:79319
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Elevated urinary dopamine level, Hypoglycemia, Abnormal ... ORPHA:230
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Long penis, Hyperglycemia, Hyperinsulinemia, Panc... OMIM:246200
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ... ORPHA:49566
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypertrophic cardiomyopa... ORPHA:71212
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypogly... ORPHA:79237
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:177910
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Abnormal bleeding, Hyperinsulinemic hypoglycemia OMIM:602579
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Osteopetrosis, Cafe-au-lait spot OMIM:618541
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Obesity, Blue irides, Red hair, Advanced ossification of carpal bones OMIM:614613
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... ORPHA:40923
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Hypoglycemia, Bruising susceptibility... ORPHA:99826
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Congestive heart failure, Hypertrophic cardiom... ORPHA:528
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Relapsing Fever
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P... ORPHA:91547
Muenke Syndrome
Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Hyper... ORPHA:53271
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnorm... ORPHA:79086
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Nephrocalcinosis, Long penis, Insulin resistance,... ORPHA:769
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Increased circulating IgE lev... OMIM:313900
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:411515
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr... OMIM:620185
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic kidney dise... OMIM:608612
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Leptospirosis
Acute kidney injury, Hypotension, Pulmonary hemorrhage, Arrhythmia, Cellular urinary casts, First... ORPHA:509
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc... ORPHA:64743
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect... OMIM:192315
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Brittle Cornea Syndrome
Corneal scarring, Increased susceptibility to fractures, Abnormality of hair pigmentation, Joint ... ORPHA:90354
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Ta... OMIM:613327
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thrive, Premature graying of hair ORPHA:100
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure,... OMIM:203800
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema ORPHA:790
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Pseudoxanthoma Elasticum
Nephrocalcinosis, Restrictive cardiomyopathy, Gastrointestinal hemorrhage, Bruising susceptibilit... ORPHA:758
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Juvenile myelomonocytic leukemia, Abnormality of the ... ORPHA:648
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Polycythemi... ORPHA:2968
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis ORPHA:88
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Brittle Cornea Syndrome 1
Red hair, Atypical scarring of skin, Dentinogenesis imperfecta, Joint hypermobility OMIM:229200
Squalene Synthase Deficiency
Elbow flexion contracture, Abnormality of hair pigmentation, Failure to thrive in infancy, Knee f... OMIM:618156
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Reduced bone mineral density, Inguinal hernia, Fine hair ORPHA:935
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocytopenia, Cereb... ORPHA:244242
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Vitreous hemorrhage, Cerebral hemorrhage, Retinal hemorrhage, Intracrani... OMIM:620371
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... OMIM:603553
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Diabetes mellitus, Ins... OMIM:608594
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia OMIM:267700
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Inguinal hernia, J... ORPHA:565
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage OMIM:177850
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obesity, Osteopor... ORPHA:398079
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... ORPHA:3322
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus,... OMIM:269700
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia ORPHA:99901
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Subdural hemorrhage, Fasting hypoglycemia, Retinal hem... ORPHA:25
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Atypical Werner Syndrome
Aortic valve stenosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,... ORPHA:79474
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... ORPHA:238468
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Steinert Myotonic Dystrophy
Insulin resistance, Atrial fibrillation, Male hypogonadism, Prolonged PR interval, Dilated cardio... ORPHA:273
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity ORPHA:411511
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Increased body weight, Abdominal obe... ORPHA:398069
Sialuria
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:616271
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:98754
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Limitation of movement at ankles, H... ORPHA:98794
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:98793
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:177904
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae ORPHA:294
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:177901
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin... OMIM:212750
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:367
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99228
Monosomy X
Horseshoe kidney, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thy... ORPHA:99226
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Increased susceptibility to fracture... ORPHA:739
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, H... ORPHA:261552
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Joint hypermobility, Abnormality of hair texture, Vertebral fu... ORPHA:96169
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Hematuria, Hematemesis, Melena, Retinal hemorrhage ORPHA:319251
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Familial Drusen
Macular hemorrhage ORPHA:75376
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Abnormal ... ORPHA:79430
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Vi... ORPHA:91500
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Subdural hemorrhage,... ORPHA:90324
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Syndromic Diarrhea
Trichorrhexis nodosa, Inguinal hernia, Uncombable hair, Generalized hypopigmentation, Brittle hai... ORPHA:84064
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Limitation of joint mobility, Ocular albinism, Inguinal hernia, Hypopigmen... ORPHA:2719
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Prolonged prothrombin time, Thr... OMIM:212065
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Degcags Syndrome
Osteopenia, Hypopigmentation of the skin, Tracheomalacia, Failure to thrive, Premature graying of... OMIM:619488
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Absence of pubertal development, Renal insufficiency... ORPHA:191
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:464
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Joint hypermobility, Hypopigmentation of hair, Widow's peak ORPHA:1974
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Rickets, Retinal pigment epithelial mottlin... OMIM:219800
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hyperpigmentation of the skin, Stel... ORPHA:177907
Liver Disease, Severe Congenital
Aminoaciduria, Abnormal left ventricular function, Hydronephrosis, Hyperinsulinemic hypoglycemia,... OMIM:619991
Yellow Fever
Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemesis, Internal h... ORPHA:99829
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Prolonged prothrombin time, Melena, Anemia OMIM:276700
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Abetalipoproteinemia
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Prolonged prothrombin time ORPHA:309854
Pierson Syndrome
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Retinal hemorrhage, Nep... OMIM:609049
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Vici Syndrome
Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Albinism, Hypopigmentation of hair OMIM:242840
Alström Syndrome
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabete... ORPHA:64
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... ORPHA:79318
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia, Bleeding w... OMIM:619525
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti... ORPHA:90062
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Adrenal calcification, Medullary nephrocalcinosis, L... ORPHA:51608
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly, Prolonged prothrombin time ORPHA:171
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Abnormal eyelash morphology, Hypopigmentation of hair, Congeni... ORPHA:818
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage OMIM:175780
Leukodystrophy, Hypomyelinating, 25
OMIM:620243

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 Tmem163

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 Tmem163.

No publications found that use IMPC mice or data for Tmem163.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tmem163em1(IMPC)Kmpc Exon Deletion Mice
Tmem163tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmem163tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmem163em1(IMPC)Mbp Exon Deletion Mice

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