Gene Summary

Name:
syntaxin binding protein 5-like
Synonyms:
t2md1,  insulin level locus 1,  tomosyn-2,  LLGL4,  T2dm1,  A830015P08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal behavior Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 2.76×10-08
decreased thigmotaxis Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 2.77×10-08
increased bone mineral content Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 6.62×10-06
abnormal coat/ hair morphology Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 2.67×10-07
increased vertical activity Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 5.84×10-05
hyperactivity Stxbp5ltm1.1(KOMP)Vlcg HOM   Early adult 1.01×10-05
increased circulating alkaline phosphatase level Stxbp5ltm1.1(KOMP)Vlcg HOM Early adult 1.05×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 75% (3 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 50% (2 of 4)
Epididymis N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 25% (1 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (4 of 4)
Jejunum N/A heterozygote 75% (3 of 4)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 50% (2 of 4)
Prostate gland N/A heterozygote 25% (1 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 75% (3 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 50% (2 of 4)
Submandibular gland N/A heterozygote 50% (2 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 75% (3 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 25% (1 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

66 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Stxbp5l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stxbp5l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Pallor, Failure to thrive ORPHA:79283
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Paresthesia, Supraventricular tachycardia, Pallor, Abnormality of ... ORPHA:90064
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Impaired ristocetin-induced platelet aggregation,... OMIM:614201
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Congenital Myasthenic Syndromes With Glycosylation Defect
Difficulty walking, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness,... ORPHA:353327
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Acute Myelomonocytic Leukemia
Weight loss, Abnormal bleeding, Pallor ORPHA:517
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Benign Paroxysmal Torticollis Of Infancy
Pallor, Ataxia ORPHA:71518
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Phenylketonuria
Depression, Fair hair, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hype... OMIM:261600
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Cerebral cortical atrophy, Spastic gait, Pallor OMIM:606353
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Paresthesia, Pallor, Paroxysmal atrial tachycardia, Lethargy, Cardiac a... ORPHA:49827
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Lethargy, Syncope ORPHA:1959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Lethargy, Pallor, Failure to thrive OMIM:613561
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:155100
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ... ORPHA:276556
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Spontaneous Periodic Hypothermia
Arrhythmia, Gait disturbance, Pallor, Ataxia ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia, Lethargy, Pallor ORPHA:276608
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Frontal upsweep of hair, Hyperactivity, Ataxia OMIM:300983
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, Tachycardia, Small for gestat... ORPHA:324575
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Inability to ... OMIM:617672
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Coffin-Siris Syndrome 8
Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Aggressive behavior, Hype... OMIM:618362
Cyclic Vomiting Syndrome
Lethargy, Pallor, Cardiomyopathy, Ataxia OMIM:500007
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ... ORPHA:276575
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ... ORPHA:276580
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Peripheral Cone Dystrophy
Pallor OMIM:609021
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Aplasia Cutis Congenita
Erythema, Skin ulcer, Prolonged bleeding time ORPHA:1114
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials OMIM:608930
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time OMIM:177820
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia, Telangiectasia of the skin, Retinal telangiec... ORPHA:438134
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
Gand Syndrome
Tics, Inappropriate laughter, Sparse hair, Hyperactivity OMIM:615074
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Hypertriglyceridemia OMIM:615924
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Pallor, Weight loss, Intracranial hemorrhage, Prolonged bleeding time ORPHA:3226
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Atrophy/Degeneration affect... OMIM:612319
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Familial Focal Epilepsy With Variable Foci
Paresthesia, Pallor ORPHA:98820
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Progressive cereb... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity, Synophrys OMIM:615541
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Essential Thrombocythemia
Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Paresthesia, Myocardial in... ORPHA:3318
Dravet Syndrome
Progressive gait ataxia, Bradykinesia, Global brain atrophy, Pallor ORPHA:33069
Rheumatic Fever
Epistaxis, Erythema, Chorea, Pallor, Arrhythmia, Gait disturbance, Myocarditis, Pericarditis ORPHA:3099
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration, Bradykinesia, Gait disturbance, Tip-toe gait OMIM:615643
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Chorea, Pallor, Ataxia, Bradykinesia, Choreoathetosis ORPHA:13
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia, Hypopigmentation of ... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Leishmaniasis
Weight loss, Abnormal bleeding, Skin ulcer, Pallor ORPHA:507
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laug... OMIM:620445
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Petechiae, Prolonged bleeding time, Bruising susceptibility OMIM:314050
Primary Myelofibrosis
Abnormal bleeding, Pallor, Petechiae, Portal hypertension, Ecchymosis, Cachexia, Purpura ORPHA:824
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Limb ataxia, ... OMIM:615157
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Breath-Holding Spells
Pallor OMIM:607578
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Postsynaptic Congenital Myasthenic Syndromes
Decreased miniature endplate potentials, Fatigable weakness of respiratory muscles, Fatigable wea... ORPHA:98913
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Cerebral atrophy, Ataxia OMIM:613839
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor, Fatigable weakness of skeletal muscles ORPHA:101096
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Pallor, Dysmetria, Distal sensory impairment,... OMIM:617675
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired thrombin-induced platelet aggrega... OMIM:139090
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor, Failure to thrive OMIM:611590
Hemoglobin D Disease
Pallor ORPHA:90039
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Positive Romberg sign, Pallor, Dysmetria, Weight loss, Gait disturbance, Atax... OMIM:301310
Slc35A1-Cdg
Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time ORPHA:238459
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Facial erythema, Pallor, Cerebral atrophy ORPHA:439218
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Pallor, Failure to thrive ORPHA:99931
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Pallor, Failure to thrive ORPHA:536516
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Neurodegeneration, Cachexia, Motor neuron atrophy, Fatigable weakn... ORPHA:803
Synaptic Congenital Myasthenic Syndromes
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Pulmonary arterial ... ORPHA:98915
Myh9-Related Disease
Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurrent epistaxis, Myocardial in... ORPHA:182050
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria,... OMIM:615491
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, P... ORPHA:90308
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Idiopathic Camptocormia
Cerebral atrophy, Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic later... ORPHA:1320
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Pallor, Increased body weight, Lethargy, Tachycardia ORPHA:263455
Waldenström Macroglobulinemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart failure, ... ORPHA:33226
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... OMIM:601399
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangrenosum, In... ORPHA:49566
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Synophrys OMIM:300143
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Pallor, Melena, Oral cavity bleeding, Post-partum hemorrhage ORPHA:98870
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Pallor, Lethargy, Weight loss, Prolonged prothrombin time, A... ORPHA:20
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Hyperactivity, Fine hair OMIM:300406
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Mucopolysaccharidosis, Type Iiib
Coarse hair, Dense calvaria, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys OMIM:252920
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Pallor, Congestive heart failure ORPHA:75564
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Pallor, Petechiae, Decreased body weight, Bradycardia, Tachycardi... ORPHA:90051
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... OMIM:203300
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous system,... OMIM:256600
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Hypertrophic cardiomyopathy... ORPHA:391428
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Prolonged bleeding... OMIM:614074
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis ORPHA:3386
Beta-Ketothiolase Deficiency
Hypotension, Pallor, Weight loss, Ataxia, Hypertension ORPHA:134
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Epistaxis, Vasculitis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Neurodegeneration, Brain atrophy, Diffuse cerebral atrophy... OMIM:214150
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Failure to thrive, Pallor, Weight loss, Tachycardia ORPHA:35858
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Bradykinesia OMIM:300894
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Superficial Siderosis
Abnormal bleeding, Impaired pain sensation, Cerebellar atrophy, Impaired temperature sensation, P... ORPHA:247245
Macs Syndrome
Bruising susceptibility, Redundant skin, Decreased body weight, Cutis laxa, Prolonged bleeding time OMIM:613075
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Failure to thrive OMIM:600462
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Letha... OMIM:618321
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Hypotension, Failure to thrive, Pallor, Lethargy, Pulmonary arterial h... OMIM:277400
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... ORPHA:100924
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Neuroblastoma
Abnormal bleeding, Antalgic gait, Anemic pallor, Weight loss, Ataxia, Hypertension ORPHA:635
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hirsutism, Hyperactivity, Synophrys, Dense calvaria OMIM:252900
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Chorea, Pallor, Cardiac conduction abnormalit... ORPHA:2131
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Chorea, Ataxia, Bradykinesia, Choreoathetosis OMIM:606159
Mucopolysaccharidosis, Type Iiic
Coarse hair, Dense calvaria, Hypertrichosis, Hirsutism, Hyperactivity, Dysphagia, Synophrys OMIM:252930
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Krabbe Disease
Neurodegeneration, Failure to thrive, Diffuse cerebral atrophy OMIM:245200
Myelofibrosis
Purpura, Pallor OMIM:254450
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer, Ataxia ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Fanconi Anemia, Complementation Group I
Pallor, Decreased body weight OMIM:609053
Rhabdoid Tumor
Weight loss, Hypertension, Internal hemorrhage ORPHA:69077
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Myocarditis, Purpura, Prolonged ble... ORPHA:809
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time, Small for gestational age OMIM:616229
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Neurodegeneration, Torsade de pointes, Hypertrophic cardiomyopathy, Gait ataxia... OMIM:616878
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding ORPHA:86839
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Ataxia, Athetosis ORPHA:52503
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Pallor, High-output congestive ... ORPHA:231226
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Dysmetria, Bradykin... OMIM:610217
Adrenoleukodystrophy
Neurodegeneration, Truncal ataxia, Limb ataxia, Impaired vibration sensation at ankles OMIM:300100
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Irida Syndrome
Pallor ORPHA:209981
Hereditary Folate Malabsorption
Pallor, Failure to thrive ORPHA:90045
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Cutaneous telangiectasia, Conjunctival telangiectasia, Ata... OMIM:615919
Cold Agglutinin Disease
Pallor ORPHA:56425
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Somatic sensory dysfunction, Failure to thrive, Conge... ORPHA:3260
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Pallor, Weight loss, Syncope, Tachycardia ORPHA:98849
Beta-Thalassemia Major
Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Pallor, High-output congestive ... ORPHA:231214
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Chorea, Cerebral atrophy ORPHA:309246
Sheehan Syndrome
Dry skin, Obesity, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Retinitis Pigmentosa 75
Pallor OMIM:617023
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Excessive wrinkled skin ORPHA:1901
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Fumarase Deficiency
Pallor, Failure to thrive, Cerebral atrophy OMIM:606812
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Abnormal bleeding ORPHA:329971
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Failure to thrive ORPHA:331206
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Pearson Marrow-Pancreas Syndrome
Erythema, Failure to thrive, Pallor, Lethargy, Small for gestational age OMIM:557000
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Hirsutism, Hypokalemia, Osteoporosis OMIM:219090
Tay-Sachs Disease
Pallor OMIM:272800
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Self-mutilation, Nail dystrophy, Hyperactivity, Sparse scalp hair OMIM:256800
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Cerebral Visual Impairment
Neurodegeneration, Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke ORPHA:447788
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor OMIM:246450
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Cerebellar atrophy, Neuronal loss in central nervous system OMIM:616239
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Neurodegeneration, Broad-based gait, Gait disturbance ORPHA:79244
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Thick eyebrow, Hyperactivity, Ataxia OMIM:620047
Senior-Loken Syndrome 8
Pallor OMIM:616307
Chediak-Higashi Syndrome
Bruising susceptibility, Neurodegeneration, Spontaneous, recurrent epistaxis, Gait disturbance, A... OMIM:214500
Pituitary Apoplexy
Hypertension, Hypotension, Pallor ORPHA:95613
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Bradykinesia, Orthostatic hypotension, Ataxia OMIM:146500
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Chorea, Cerebral atrophy OMIM:272750
Fanconi Anemia, Complementation Group E
Anemic pallor, Small for gestational age, Bruising susceptibility OMIM:600901
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration, Loss of ambulation, Gait disturbance, Ataxia OMIM:614298
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Pallor OMIM:308300
Letterer-Siwe Disease
Pallor OMIM:246400
Elliptocytosis 1
Pallor OMIM:611804
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration ORPHA:478029
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Shock, Palpitations, Petechiae, Ecchymosis, Decreased body weight, Tachyc... ORPHA:340
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Large vessel vasculitis, Petechiae, Hematemesis, Melena, Purpura, P... OMIM:301000
Fanconi Anemia, Complementation Group A
Anemic pallor, Small for gestational age, Bruising susceptibility OMIM:227650
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Neurodegeneration, Ataxia OMIM:618476
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Pallor, Weight loss, Supraventricular arrhyt... ORPHA:91347
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Prolactinoma
Hypotension, Pallor ORPHA:2965
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function... ORPHA:892
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:608233
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Fanconi Anemia, Complementation Group C
Anemic pallor, Small for gestational age, Bruising susceptibility OMIM:227645
Marburg Hemorrhagic Fever
Hypotension, Abnormal bleeding, Bruising susceptibility, Shock, Excessive bleeding after a venipu... ORPHA:99826
Esophageal Atresia
Failure to thrive in infancy, Pallor, Small for gestational age ORPHA:1199
Hellp Syndrome
Hypotension, Increased body weight, Internal hemorrhage, Prolonged prothrombin time, Cerebral hem... ORPHA:244242
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degeneration, Gait disturbance, Ataxi... OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Degcags Syndrome
Failure to thrive, Pallor, Pulmonary arterial hypertension, Tachycardia, Small for gestational ag... OMIM:619488
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Congestive heart failure OMIM:309900
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Pallor, Failure to thrive, Congestive heart failure OMIM:105650
Diamond-Blackfan Anemia
Lethargy, Pallor, Small for gestational age ORPHA:124
Fanconi Anemia, Complementation Group D2
Anemic pallor, Small for gestational age, Bruising susceptibility OMIM:227646
Hurler Syndrome
Neurodegeneration, Aortic regurgitation, Mitral regurgitation, Cardiomyopathy OMIM:607014
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Pallor, Hypertension ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pallor, Bruising susceptibility ORPHA:667
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Striae distensae, Arterial rupture, Mitral regurgitation, Abnormal heart... ORPHA:287
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Broad-based gait, Falls, Failure to thrive, Tip-toe gait, Congestive heart ... OMIM:619475
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Cardiomyopathy OMIM:253220
Goodpasture Syndrome
Pulmonary hemorrhage, Weight loss, Pallor OMIM:233450
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Excessive bleeding after a ... ORPHA:99829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Nijmegen Breakage Syndrome
Neurodegeneration, Conjunctival telangiectasia OMIM:251260
Cardiac-Urogenital Syndrome
Tachycardia, Prolonged bleeding time OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... ORPHA:99125
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration, Failure to thrive OMIM:620455
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Redundant skin, Excessive ... ORPHA:286
Primrose Syndrome
Neurodegeneration, Truncal obesity, Ataxia OMIM:259050

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 Stxbp5l

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 Stxbp5l.

No publications found that use IMPC mice or data for Stxbp5l.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Stxbp5ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stxbp5ltm43346(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Stxbp5ltm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Stxbp5ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stxbp5ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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