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Gene: Pnpla6 MGI:1354723

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
patatin-like phospholipase domain containing 6
Synonyms:
MSws,  Nte,  Swiss-cheese

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pnpla6 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 Pnpla6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia OMIM:612020
Laurence-Moon Syndrome
Ataxia OMIM:245800
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia OMIM:215470
Laurence-Moon Syndrome
Ataxia ORPHA:2377
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia ORPHA:1173
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia ORPHA:139480
Oliver-Mcfarlane Syndrome
Severe short stature, Delayed puberty OMIM:275400

The table below shows human diseases predicted to be associated to Pnpla6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder OMIM:620038
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental And Epileptic Encephalopathy 104
Hyperactivity OMIM:619970
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... ORPHA:90064
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dural Sinus Malformation
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... ORPHA:97339
Morm Syndrome
Hyperactivity ORPHA:75858
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity OMIM:615924
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity OMIM:619470
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Ath... ORPHA:231160
Retinitis Pigmentosa 42
Pallor OMIM:612943
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Short stature, Pallor, Paroxysmal atrial tachycardia, Ventricular s... ORPHA:49827
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Retinitis Pigmentosa 60
Pallor OMIM:613983
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Retinitis Pigmentosa 81
Pallor OMIM:617871
Optic Atrophy 9
Pallor OMIM:616289
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Glycine Encephalopathy
Hyperactivity OMIM:605899
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Athetosis ORPHA:382
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia ORPHA:248111
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity OMIM:612716
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... ORPHA:280679
Snakebite Envenomation
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hyp... ORPHA:449285
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Optic Atrophy 1
Pallor OMIM:165500
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... ORPHA:331
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Abnormal left ventricle morphology, Moyamoya phenomenon, Dila... OMIM:300845
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Histidinemia
Hyperactivity ORPHA:2157
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria OMIM:617302
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Menkes Disease
Abnormal carotid artery morphology, Intracranial hemorrhage, Dry skin, Arterial stenosis, Vascula... ORPHA:565
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Cutis laxa, Short stature OMIM:309400
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage ORPHA:140989
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Gand Syndrome
Hyperactivity OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Retinitis Pigmentosa 70
Pallor OMIM:615922
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Retinitis Pigmentosa 27
Pallor OMIM:613750
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer, ... ORPHA:624
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Unsteady gait OMIM:617865
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Myocardial fibrosis, Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Pyoderma gangrenosum, Prolo... ORPHA:49566
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Mirage Syndrome
Hydrocephalus, Petechiae, Short stature, Intracranial hemorrhage, Patent ductus arteriosus, Intra... OMIM:617053
Hemoglobin D Disease
Pallor ORPHA:90039
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Short s... ORPHA:536545
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral... ORPHA:90065
Pseudo-Torch Syndrome 2
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia OMIM:617397
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Retinitis Pigmentosa 73
Pallor OMIM:616544
Breath-Holding Spells
Pallor OMIM:607578
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Unsteady... ORPHA:228360
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... ORPHA:464321
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic atherosclerotic lesion, Mitral regurgitation, Mitral valve calcific... ORPHA:363618
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... ORPHA:99828
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Int... OMIM:609053
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... ORPHA:369929
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Hydrocephalus, Congestive heart failure ORPHA:163596
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Intracranial hemorrhage, Stillbirth OMIM:241500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
Evans Syndrome
Petechiae, Bruising susceptibility, Pallor, Syncope, Epistaxis ORPHA:1959
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619827
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Growth delay, Short stature OMIM:615631
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity OMIM:618314
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Gait ataxia ORPHA:500180
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Short stature OMIM:606054
Beta-Thalassemia
Skin ulcer, Hypertrophic cardiomyopathy, Pallor ORPHA:848
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Osteogenesis Imperfecta
Hydrocephalus, Cerebral hemorrhage, Cutis laxa, Bruising susceptibility, Short stature, Arterial ... ORPHA:666
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Leishmaniasis
Skin ulcer, Abnormal bleeding, Pallor ORPHA:507
Idiopathic Pulmonary Hemosiderosis
Pallor, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur ORPHA:99931
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Rare Circulatory System Disease
Intermittent claudication, Arterial calcification, Pallor, Arterial tortuosity, Abnormal systemic... ORPHA:98028
Primary Myelofibrosis
Petechiae, Pallor, Abnormal bleeding, Purpura, Ecchymosis, Portal hypertension ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Atrial septal defect, Short stature, Intracranial hemorrhage, Heart murmur, Ventri... ORPHA:163979
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Short stature, Intracranial... ORPHA:109
Tempi Syndrome
Facial erythema, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Arachnoid Cyst
Encephalocele, Hydrocephalus, Subarachnoid hemorrhage, Holoprosencephaly ORPHA:2356
Dravet Syndrome
Pallor ORPHA:33069
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Viss Syndrome
Tortuous cerebral arteries, Pulmonary artery aneurysm, Aortic tortuosity, Ventricular septal defe... OMIM:619472
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... ORPHA:464329
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... ORPHA:906
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Pallor, Abnormal bleeding, Congestive heart failure ORPHA:75564
Retinitis Pigmentosa 51
Pallor OMIM:613464
Waldenström Macroglobulinemia
Stroke, Pallor, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Gastrointestinal hemo... ORPHA:33226
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Congenital Dyserythropoietic Anemia Type Iii
Melena, Post-partum hemorrhage, Short stature, Pallor, Oral cavity bleeding, Gingival bleeding ORPHA:98870
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage OMIM:243700
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... ORPHA:99901
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Stroke, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Growth de... ORPHA:79282
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Stroke, Lack of skin elasticity, Myocardial in... ORPHA:740
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hydrocephal... ORPHA:137675
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure ORPHA:90037
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Intraventricular h... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Intraventricular h... ORPHA:363958
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Athetosis ORPHA:52503
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... ORPHA:340
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Pallor, Intracranial hem... ORPHA:3260
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Tachycardia ORPHA:263455
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... ORPHA:79284
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Dominant Beta-Thalassemia
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... ORPHA:231226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia, Cardiomegaly OMIM:608836
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Petechiae, Pallor, Abnormal bleeding, Tachycardia, Hypotension, Purpura, Bradycardia ORPHA:90051
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
X-Linked Adrenoleukodystrophy
Gait disturbance, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:43
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Mild postnatal growth ret... ORPHA:90324
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Pallor, Growth delay ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Tachycardia, Congestive heart failure ORPHA:90033
Beta-Thalassemia Major
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... ORPHA:231214
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Intrauterine growth retardation, Prolonged prothromb... OMIM:619055
Cold Agglutinin Disease
Pallor ORPHA:56425
Alg3-Cdg
Neural tube defect ORPHA:79321
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Classic Homocystinuria
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... ORPHA:394
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage, Communicating hydrocephalus ORPHA:25
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity OMIM:620047
Myelofibrosis
Pallor, Purpura OMIM:254450
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Tachycardia ORPHA:348
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Diamond-Blackfan Anemia 1
Atrial septal defect, Short stature, Tricuspid stenosis, Pallor, Coarctation of aorta, Ventricula... OMIM:105650
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Hydranencephaly
Postnatal growth retardation, Abnormal internal carotid artery morphology, Abnormal cerebral arte... ORPHA:2177
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Hypotension, Dilated cardiomyopathy, Cardiac arrest, Prolonged prothrombin time ORPHA:20
Irida Syndrome
Pallor ORPHA:209981
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Bruising susceptibility, Short stature, Anemic pallor, Patent ductus arteriosus, A... OMIM:227646
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Degcags Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Pulmonic stenosis, Pallor, Tachycardia, Ventric... OMIM:619488
Beta-Ketothiolase Deficiency
Pallor, Hypertension, Hypotension ORPHA:134
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Aregenerative Anemia
Pallor, Abnormal bleeding, Bruising susceptibility ORPHA:101096
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Imerslund-Gräsbeck Syndrome
Pallor, Abnormal bleeding, Tachycardia ORPHA:35858
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hydrocephalus, Bruising susceptibility, Pallor, Growth delay... ORPHA:667
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Tachycardia, Hypotension, Syncope ORPHA:98849
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Fumarase Deficiency
Pallor OMIM:606812
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia ORPHA:91355
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Acute Liver Failure
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hyp... ORPHA:90062
Witteveen-Kolk Syndrome
Short stature, Branchial fistula, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... OMIM:613406
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Palpitations, Retinal hemorrhage ORPHA:86839
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Riddle Syndrome
Short stature, Intraventricular hemorrhage, Conjunctival telangiectasia, Erythema, Scaling skin, ... ORPHA:420741
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage ORPHA:616
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Short stature, Anemic pallor, Ventricular septal defect, Intrauterine gr... OMIM:227645
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Esophageal Atresia
Pallor, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Growth delay ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... ORPHA:91347
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Blackfan-Diamond Anemia
Atrial septal defect, Short stature, Pallor, Radial artery aplasia, Coarctation of aorta, Ventric... ORPHA:124
Von Hippel-Lindau Disease
Abnormal left ventricular function, Stroke, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocar... ORPHA:892
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage, Short stature OMIM:308300
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Gait ataxia, Hyperactivity, Dysmetria OMIM:610217
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage, Short stature OMIM:619714
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Childhood Absence Epilepsy
Pallor ORPHA:64280
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Bruising susceptibility, Abnormal heart morphology OMIM:600901
Letterer-Siwe Disease
Pallor OMIM:246400
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Bruising susceptibility, Abnormal heart morphology OMIM:227650
Hellp Syndrome
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension ORPHA:244242
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Striae distensae ORPHA:199244
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Superficial Siderosis
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... ORPHA:247245
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Elliptocytosis 1
Pallor OMIM:611804
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Meningioma
Hydrocephalus, Cerebral hemorrhage, Syncope ORPHA:2495
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
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
Infection-Related Hemolytic Uremic Syndrome
Pallor, Hypertension, Myocarditis, Hypertensive crisis ORPHA:544482
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Multiple Endocrine Neoplasia Type 2
Pallor, Hypertension associated with pheochromocytoma, Palpitations, Hypertensive crisis ORPHA:653
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension ORPHA:139417
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Retinal hemorrhage, Retinal arter... OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93924
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Pmm2-Cdg
Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertrophic cardiomyopathy, Pericardial ... ORPHA:79318
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia OMIM:612020
Laurence-Moon Syndrome
Ataxia OMIM:245800
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia OMIM:215470
Laurence-Moon Syndrome
Ataxia ORPHA:2377
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia ORPHA:1173
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia ORPHA:139480
Oliver-Mcfarlane Syndrome
Severe short stature, Delayed puberty OMIM:275400

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 Pnpla6

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 Pnpla6.

No publications found that use IMPC mice or data for Pnpla6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pnpla6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnpla6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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