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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:
Swiss-cheese,  MSws,  Nte

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
Gait ataxia, Ataxia OMIM:215470
Laurence-Moon Syndrome
Ataxia ORPHA:2377
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia ORPHA:139480
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia ORPHA:1173
Oliver-Mcfarlane Syndrome
Delayed puberty, Severe short stature 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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Stroke, Myocardial infarction, Supraventricular tachycardia, Abnor... ORPHA:90064
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Menkes Disease
Intrauterine growth retardation, Cutis laxa, Intracranial hemorrhage, Short stature OMIM:309400
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Retinitis Pigmentosa 42
Pallor OMIM:612943
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Retinitis Pigmentosa 60
Pallor OMIM:613983
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Stroke, Congestiv... ORPHA:49827
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... ORPHA:136
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Retinitis Pigmentosa 81
Pallor OMIM:617871
Optic Atrophy 9
Pallor OMIM:616289
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Hypertension, Delayed pube... ORPHA:280679
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis... ORPHA:449285
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal left ventricle morphology... OMIM:300845
Optic Atrophy 1
Pallor OMIM:165500
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... ORPHA:331
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke ORPHA:140989
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Cyclic Vomiting Syndrome
Growth delay, Pallor, Cardiomyopathy OMIM:500007
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Umbilical hernia, In... ORPHA:565
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Retinitis Pigmentosa 70
Pallor OMIM:615922
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Retinitis Pigmentosa 27
Pallor OMIM:613750
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae, Short stature, Intrauterine growth ... OMIM:617053
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Pallor, Bruising susceptibility ORPHA:3226
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia OMIM:617397
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer ORPHA:624
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Dextrocardia, Bicuspid... ORPHA:536545
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Pyoderma gangrenosum, Shock, Prolo... ORPHA:49566
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Histidinemia
Hyperactivity ORPHA:2157
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Breath-Holding Spells
Pallor OMIM:607578
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Retinitis Pigmentosa 73
Pallor OMIM:616544
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Gand Syndrome
Hyperactivity OMIM:615074
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising sus... ORPHA:99828
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Hypophosphatasia, Infantile
Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth OMIM:241500
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Short stature, Intrauterin... OMIM:609053
Mental Retardation, Autosomal Recessive 61
Hyperactivity OMIM:617773
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Fetal Gaucher Disease
Intracranial hemorrhage, Neonatal death, Stillbirth ORPHA:85212
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of medium-sized arteries, Angina pectoris, Arte... OMIM:177850
Evans Syndrome
Syncope, Epistaxis, Petechiae, Bruising susceptibility, Pallor ORPHA:1959
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Pallor, Hydrocephalus ORPHA:163596
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Premature skin wrinkling, Intracranial hemorrhage, Mitral valve calcific... ORPHA:363618
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Patent ductus arteriosus, Thoracic aortic aneurysm, Striae distensae, Mi... OMIM:613795
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Epi... ORPHA:324636
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Intracranial hemorrhage... ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Short stature OMIM:606054
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Leishmaniasis
Abnormal bleeding, Pallor, Skin ulcer ORPHA:507
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Osteogenesis Imperfecta
Aortic aneurysm, Aortic regurgitation, Mitral valve prolapse, Abnormal endocardium morphology, Rh... ORPHA:666
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor OMIM:600462
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Primary Myelofibrosis
Abnormal bleeding, Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Tempi Syndrome
Intracranial hemorrhage, Facial erythema, Telangiectasia ORPHA:284227
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atherosclerosis, Stroke, Hypertension, Cere... ORPHA:494424
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Short stature, Intrauterine growt... ORPHA:1908
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Epistax... ORPHA:464329
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Dravet Syndrome
Pallor ORPHA:33069
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Growth delay, Subdural hemorrhage, Pulmonary a... ORPHA:79282
Fragile X Syndrome
Hyperactivity OMIM:300624
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Pr... ORPHA:99901
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Pulmonary arterial hypertension, Transient isch... ORPHA:740
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Stroke, Congestive heart failure, Vasculitis, Re... ORPHA:33226
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Melena, Short stature, Pallor, Gingival bleeding ORPHA:98870
Histiocytoid Cardiomyopathy
Hydrocephalus, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial ... ORPHA:137675
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Angina pectoris, Cerebral artery stenosis, Pulmonary embolism, Myocardial infa... ORPHA:447
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage, Abnormal heart morpho... ORPHA:79284
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Retinitis Pigmentosa 51
Pallor OMIM:613464
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,... ORPHA:3260
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke OMIM:263400
Bannayan-Riley-Ruvalcaba Syndrome
Aortic aneurysm, Intracranial hemorrhage, Angina pectoris, Short stature, Subcutaneous hemorrhage... ORPHA:109
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Hydrocephalus, Abnormal heart mo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Hydrocephalus, Abnormal heart mo... ORPHA:363958
Dominant Beta-Thalassemia
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231226
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly OMIM:608836
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Rare Circulatory System Disease
Arterial calcification, Pallor, Intermittent claudication ORPHA:98028
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Hypotension, Petechiae, Tachycardia, Bradycardia, Pallor ORPHA:90051
Mend Syndrome
Hyperactivity OMIM:300960
Beta-Thalassemia Major
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231214
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Neonatal death, Intraventricular hemorrhage, Prolonged prothromb... OMIM:619055
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pallor, Short stature OMIM:617675
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:600376
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus ORPHA:25
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Cold Agglutinin Disease
Pallor ORPHA:56425
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity ORPHA:228402
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity OMIM:614613
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Subdural hemorrhage, Stroke, Mild postnatal growth ret... ORPHA:90324
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Cardiac arrest, Dilated cardiomyopathy, Pallor, Prolonged prothrombin time ORPHA:20
Myelofibrosis
Pallor, Purpura OMIM:254450
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Sh... OMIM:105650
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature ORPHA:90795
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Fanconi Anemia, Complementation Group D2
Anemic pallor, Abnormal heart morphology, Patent ductus arteriosus, Short stature, Bruising susce... OMIM:227646
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Beta-Ketothiolase Deficiency
Hypotension, Pallor, Hypertension ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Irida Syndrome
Pallor ORPHA:209981
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Pallor, Bradycardia, Dry skin ORPHA:91355
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Congestive heart fai... OMIM:171300
Fumarase Deficiency
Pallor OMIM:606812
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:391307
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Pallor, Syncope ORPHA:98849
Senior-Loken Syndrome 8
Pallor OMIM:616307
Acute Liver Failure
Abnormal bleeding, Hepatocellular necrosis, Gastrointestinal hemorrhage, Intracranial hemorrhage,... ORPHA:90062
Hydranencephaly
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal cerebral artery morpho... ORPHA:2177
Pituitary Apoplexy
Hypotension, Pallor, Hypertension ORPHA:95613
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity ORPHA:168491
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Scaling skin, Erythema, Short stature, ... ORPHA:420741
Incontinentia Pigmenti
Pallor, Retinal hemorrhage, Short stature, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Abnormal T-wave, Pallor, Cardiomyopathy ORPHA:2131
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Short stature, Intrauterine growth retardation, Bruisin... OMIM:227645
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Stroke, Myocardial in... ORPHA:892
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Tay-Sachs Disease
Pallor OMIM:272800
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Anemic pallor, Retinal hemorrhage ORPHA:86839
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Parkes Weber Syndrome
Abnormal bleeding, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Scaling skin, Hi... ORPHA:90307
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Pulmonary arterial ... ORPHA:667
Mucopolysaccharidosis, Type Iiib
Hyperactivity OMIM:252920
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility, Short stature, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility, Short stature, Abnormal heart morphology OMIM:227650
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Esophageal Atresia
Ventricular septal defect, Growth delay, Coarctation of aorta, Tetralogy of Fallot, Pallor ORPHA:1199
Letterer-Siwe Disease
Pallor OMIM:246400
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Childhood Absence Epilepsy
Pallor ORPHA:64280
Angelman Syndrome
Progressive gait ataxia, Broad-based gait, Hyperactivity OMIM:105830
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Growth delay, Short s... ORPHA:124
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Mucopolysaccharidosis, Type Iiic
Hyperactivity OMIM:252930
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Glass Syndrome
Broad-based gait, Hyperactivity OMIM:612313
Elliptocytosis 1
Pallor OMIM:611804
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Short stature OMIM:617660
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Abnormal bleeding, Growth delay, Hematochezia ORPHA:329971
Nelson Syndrome
Intracranial hemorrhage, Striae distensae, Hypertension ORPHA:199244
Meningioma
Cerebral hemorrhage, Hydrocephalus, Syncope ORPHA:2495
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Infection-Related Hemolytic Uremic Syndrome
Pallor, Hypertensive crisis, Hypertension, Myocarditis ORPHA:544482
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity OMIM:256800
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Ischemic stroke, Hydrocephalus, Corneal neovascularization OMIM:175780
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Pmm2-Cdg
Pericarditis, Angina pectoris, Intracranial hemorrhage, Pericardial effusion, Hypertrophic cardio... ORPHA:79318
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia OMIM:612020
Laurence-Moon Syndrome
Ataxia OMIM:245800
Boucher-Neuhauser Syndrome
Gait ataxia, Ataxia OMIM:215470
Laurence-Moon Syndrome
Ataxia ORPHA:2377
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia ORPHA:139480
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia ORPHA:1173
Oliver-Mcfarlane Syndrome
Delayed puberty, Severe short stature 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.

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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

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