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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
increased total body fat amount Tmem163em1(IMPC)Kmpc HOM Early adult 5.64×10-07
abnormal skin morphology Tmem163em1(IMPC)Mbp HOM Early adult 0.00
increased circulating insulin level Tmem163em1(IMPC)Mbp HOM Early adult 3.18×10-14
abnormal kidney morphology Tmem163em1(IMPC)Mbp HOM Early adult 0.00
decreased bone mineral content Tmem163em1(IMPC)Kmpc HOM Early adult 1.45×10-15
decreased bone mineral density Tmem163em1(IMPC)Kmpc HOM Early adult 4.61×10-12
decreased lean body mass Tmem163em1(IMPC)Kmpc HOM Early adult 3.85×10-06
eye hemorrhage Tmem163em1(IMPC)Mbp HOM Early adult 1.71×10-05
small kidney Tmem163em1(IMPC)Mbp HOM Early adult 0.00
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

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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 aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla... OMIM:155100
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia OMIM:185050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra... ORPHA:3002
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility, Sparse hair OMIM:259690
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Coarse metaphyseal trabecularization, Macular hyperpigmented dermopathy ORPHA:2779
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl... ORPHA:182050
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp... ORPHA:3318
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding ORPHA:1059
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati... OMIM:210250
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Tachycardia, Hyperinsulinemic h... ORPHA:276608
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage... OMIM:603585
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Hypertension ORPHA:79084
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyperglycemia, Diabetic k... OMIM:262190
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Palpitatio... ORPHA:276556
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hypertension, Abnormal circulat... ORPHA:280356
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Insulinoma
Hyperinsulinemia, Palpitations, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pitui... ORPHA:97279
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint... ORPHA:324636
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Sple... OMIM:608233
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair 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
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi... ORPHA:906
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage ORPHA:90308
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Renal cyst, Abnormal circulating insulin concentration, G... ORPHA:552
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal cyst, Raynaud phenomenon, Lacun... OMIM:611773
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hypertension, Hyperglycemia, Type II diabetes mellitus, Insu... OMIM:604367
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ... OMIM:301000
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Thrombocytopenia 10
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... OMIM:620484
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Abnormal bleeding, Epistaxis, Multiple renal cysts, Subconj... ORPHA:464329
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis ORPHA:2849
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Inappropriate antidiuretic hormone... ORPHA:99827
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ... ORPHA:79329
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Microscopic hematuria, Ecchymosis, Subconjunctiva... ORPHA:319213
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertension ORPHA:363400
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Leukopenia, Splenomegaly, Prolonged bleeding time, Hemolyti... ORPHA:809
Chédiak-Higashi Syndrome
Abnormal bleeding, Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopen... ORPHA:167
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Portal hypertension ORPHA:79319
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis OMIM:273900
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyperglycemia, Pancreatic... OMIM:246200
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Orthostatic syncope, Elevated urinary dopamine level, ... ORPHA:230
Galactokinase Deficiency
Increased level of galactitol in urine, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogon... ORPHA:79237
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, ... ORPHA:71212
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Obesity, Advanced ossification of carpal bones, Blue irides, Fair hair OMIM:614613
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Proximal tubulopathy, Abnormal bleeding, Renal cyst OMIM:602579
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ... ORPHA:99147
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Congenital Generalized Lipodystrophy
Congestive heart failure, Hyperinsulinemia, Precocious puberty in females, Hypertrophic cardiomyo... ORPHA:528
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... ORPHA:335
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Neutrophilia, Thrombocytopen... ORPHA:91547
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, C... ORPHA:53271
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy, Protei... ORPHA:79086
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair ORPHA:2221
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
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
Hypopigmentation of hair, Alopecia ORPHA:1067
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Cardiomyopathy, Impaired gl... ORPHA:769
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... OMIM:620185
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Stage 5 chronic kidney disease, Glucose intolerance, Insulin-res... OMIM:608612
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Leptospirosis
Acute kidney injury, Hypotension, Retinal hemorrhage, Cellular urinary casts, Pericarditis, Subco... ORPHA:509
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Thrombocytope... ORPHA:64743
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Proteinuria, ... OMIM:192315
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Osteoporosis, Joint hypermobil... ORPHA:90354
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia, Insulin r... OMIM:613327
Ataxia-Telangiectasia
Premature graying of hair, Failure to thrive, Multiple cafe-au-lait spots, Hypopigmentation 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
Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperinsulinemia... OMIM:203800
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Leukop... ORPHA:2330
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Hypercalciuria, Hypertrophic... ORPHA:508
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage ORPHA:790
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnorma... ORPHA:3464
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal bleeding, Abnormal platelet function, Abnormality of t... ORPHA:648
Leukocyte Adhesion Deficiency
Abnormal bleeding, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormali... ORPHA:2968
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Brittle Cornea Syndrome 1
Joint hypermobility, Atypical scarring of skin, Red hair, Dentinogenesis imperfecta OMIM:229200
Squalene Synthase Deficiency
Failure to thrive in infancy, Elbow flexion contracture, Abnormality of hair pigmentation, Knee f... OMIM:618156
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, Reduced bone mineral density, White hair, Inguinal hernia ORPHA:935
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh... ORPHA:244242
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypertension, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabe... OMIM:151660
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Vitreo... OMIM:620371
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Cardiomyopathy, Nephrolithiasis, Diabetes mellitus, Ins... OMIM:608594
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegal... OMIM:603553
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Anemia, Hemophagocytosis, Leukopenia, Thrombocytopenia, Splenomegaly OMIM:267700
Menkes Disease
Tarsal synostosis, Chondrocalcinosis, Hypopigmentation of hair, Inguinal hernia, Woolly hair, Ost... ORPHA:565
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... ORPHA:33226
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia OMIM:214950
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Nephrolithiasis, Hypertrophic cardiomyopathy, Type II d... OMIM:269700
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:398079
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Failure to thrive, Generalized hype... ORPHA:3322
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia ORPHA:99901
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Fasting hypoglycemia, Retinal hemorrhage, Chronic kidney disease, Subdural hem... ORPHA:25
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Congestive heart failure, Hyperinsulinemia, Hyper... ORPHA:79474
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Splenomegaly OMIM:618641
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Tenorio Syndrome
Hypoinsulinemia, Enuresis, Raynaud phenomenon, Syncope, Hypoglycemia OMIM:616260
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Increased body weight, Hypopigmentation of the skin, Osteop... ORPHA:398069
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98754
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hematochezia, Splenomegaly OMIM:613812
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Limitation of movement at ankles, Iris hy... ORPHA:98794
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177904
Fetal Cytomegalovirus Syndrome
Petechiae, Retinal hemorrhage ORPHA:294
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177901
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased ... OMIM:212750
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Accessory spleen OMIM:618280
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Prolonged QT interval, Horseshoe kidney, Ectopic kidney, Thyro... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Prolonged QT interval, Horseshoe kidney, Ectopic kidney, Thyro... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Prolonged QT interval, Horseshoe kidney, Ectopic kidney, Thyro... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Prolonged QT interval, Horseshoe kidney, Ectopic kidney, Thyro... ORPHA:99226
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Urinary retention, Recurrent hypoglycemia ORPHA:2126
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:739
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261552
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Joint h... ORPHA:96169
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Rift Valley Fever
Hematemesis, Abnormal bleeding, Hematuria, Melena, Gingival bleeding, Retinal hemorrhage ORPHA:319251
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Hematochezia ORPHA:96168
Familial Drusen
Macular hemorrhage ORPHA:75376
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Hypopigmentation of the skin, Long e... ORPHA:79430
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Increased blood pressure, Neurogenic bladder, Cardiomyopa... ORPHA:90324
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Sterile pyuria, Beta 2-m... ORPHA:91500
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Anemia, Leukocytosis, Leukopenia, Thrombocytosis ORPHA:20
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Inguinal hernia, Generalized hypopi... ORPHA:84064
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Hypopigmentation of hair, Limitation of joint mobility, Iris hypopigmentation, O... ORPHA:2719
Alg12-Cdg
Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz... ORPHA:79324
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Decreased circulating IgG level, Thrombocytosis, Decreased circulatin... OMIM:212065
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage OMIM:608710
Degcags Syndrome
Premature graying of hair, Osteopenia, Hypopigmentation of hair, Tracheomalacia, Hiatus hernia, A... OMIM:619488
Cockayne Syndrome
Delayed puberty, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Hypertensio... ORPHA:191
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,... ORPHA:464
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Joint hypermobility, Coarse hair, Widow's peak ORPHA:1974
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Hypopigmentation of the skin, Failur... OMIM:219800
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Yellow Fever
Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Leukocytosis, Internal hemorrhage, In... ORPHA:99829
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Anemia, Melena, Splenomegaly OMIM:276700
Isolated Biliary Atresia
Prolonged prothrombin time, Splenomegaly ORPHA:30391
Liver Disease, Severe Congenital
Hypospadias, Alpha-aminobutyric aciduria, Abnormal circulating thyroid hormone concentration, Sys... OMIM:619991
Abetalipoproteinemia
Prolonged prothrombin time, Abnormal bleeding, Anemia, Reticulocytosis, Acanthocytosis ORPHA:14
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Decreased cir... ORPHA:247598
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Polycythemia, Splenomegaly ORPHA:309854
Pierson Syndrome
Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, S... OMIM:609049
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Albinism, Ocular albinism OMIM:242840
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Hypertension, Decrea... ORPHA:64
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Angina pectoris... ORPHA:79318
Trichinellosis
Retinal hemorrhage ORPHA:863
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Anemia, Thrombocytopenia, Splenomegaly, Bleeding with minor or no tra... OMIM:619525
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Int... ORPHA:90062
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Medullary nephrocalcinosis, Transient ischem... ORPHA:51608
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Splenomegaly ORPHA:404454
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly ORPHA:171
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormal dental enamel morphology, Abnormal eyelash morphology, ... ORPHA:818
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage, Retinal 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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