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Gene: Pikfyve MGI:1335106

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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:
phosphoinositide kinase, FYVE type zinc finger containing
Synonyms:
PipkIII,  Pip5k3,  5230400C17Rik

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 Pikfyve 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 Pikfyve by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fleck
OMIM:121850

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Neonatal de... OMIM:601186
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Right ve... OMIM:619705
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrop... ORPHA:369840
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Cerebellar atrophy, Patent foramen ovale ORPHA:89844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... OMIM:619313
Peripartum Cardiomyopathy
Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat... ORPHA:563
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Difficulty walking, Trunc... ORPHA:369847
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Coarctation of aorta, R... ORPHA:280195
Alg9-Cdg
Cerebellar atrophy, Hepatomegaly, Torticollis, Ventricular septal defect, Ureteral hypoplasia, Hy... ORPHA:79328
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Mitral valve prolapse, Right... OMIM:612863
Slc35A2-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrain morphology, Limb joint contra... ORPHA:356961
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Renal cyst, Ho... OMIM:614815
Joubert Syndrome 32
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Hyper... OMIM:617757
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal bra... ORPHA:1532
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Optic... OMIM:214110
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Meckel Syndrome 13
Occipital encephalocele, Ataxia, Flexion contracture, Cerebellar hypoplasia, Polycystic kidney dy... OMIM:617562
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Hepatomegaly, Ataxia, Cerebellar vermi... OMIM:216360
Joubert Syndrome 4
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Sta... OMIM:609583
Meckel Syndrome, Type 4
Encephalocele, Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Hy... OMIM:611134
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnorm... ORPHA:99852
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar... OMIM:617053
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Ventricular septal defect, Agenesis of cereb... OMIM:614424
Joubert Syndrome 3
Atrial septal defect, Cerebellar vermis hypoplasia, Ataxia, Stage 5 chronic kidney disease, Nephr... OMIM:608629
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Death in infancy, Adrenal hypoplasia, Morg... OMIM:613177
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... ORPHA:370959
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly, Ataxia OMIM:617767
Coach Syndrome 3
Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, M... OMIM:619113
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... ORPHA:99106
Syndromic Diarrhea
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... ORPHA:84064
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Opt... ORPHA:98755
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Immunodeficiency 9
Death in infancy, Myopathy, Hypoplasia of the thymus, Difficulty walking, Failure to thrive OMIM:612782
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... ORPHA:99104
Stormorken Syndrome
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He... OMIM:185070
Gracile Bone Dysplasia
Death in infancy, Asplenia, Hydrocephalus, Micropenis, Hypoplastic spleen, Failure to thrive OMIM:602361
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp... ORPHA:206448
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... OMIM:617022
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Joubert Syndrome 7
Encephalocele, Ataxia, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasi... OMIM:611560
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Malformation of the hepatic ducta... OMIM:614175
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydronephrosis OMIM:617127
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Abnormal midbrain morphology, Foot... ORPHA:444072
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... ORPHA:567
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology,... ORPHA:68
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Stage 5 chronic kidney disease, H... OMIM:610688
Joubert Syndrome 35
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Ataxia, Renal fibrosis, Molar tooth s... OMIM:618161
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy, Aplasia/Hypop... ORPHA:79279
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Ataxia ORPHA:263410
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Joubert Syndrome 15
Ataxia, Exencephaly, Nephronophthisis, Molar tooth sign on MRI, Micropenis OMIM:614464
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defe... OMIM:619306
Joubert Syndrome 16
Encephalocele, Renal cyst, Nephronophthisis, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Coach Syndrome 2
Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepati... OMIM:619111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, Obesity, Hydronephrosis, Molar tooth ... OMIM:619185
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, H... OMIM:608091
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... ORPHA:79139
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Renal cyst OMIM:614970
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Ataxia, Hydroce... ORPHA:220493
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Failure to thrive, Abnormal brainstem morphology ORPHA:255182
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, In... ORPHA:99947
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mitral valve... ORPHA:99103
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Lennox-Gastaut Syndrome
Falls, Abnormal brainstem morphology ORPHA:2382
Joubert Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of cerebel... OMIM:213300
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Ataxia OMIM:617121
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Abnormal brainstem morp... ORPHA:370022
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Renal hypoplasia OMIM:615665
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sp... ORPHA:99776
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Ataxia, Female hypogonadism, Inability to walk, Bronchiectasis, C... OMIM:208900
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele, Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Asplenia, Molar tooth sign on MRI, Dandy-Walker malf... OMIM:249000
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Overweight, Hypoplastic left heart, Joint ... OMIM:619562
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, ... ORPHA:220497
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Recurrent respiratory infections, Cerebellar vermis hypoplasia, Hypospad... ORPHA:397715
Proteus Syndrome
Lymphangioma, Splenomegaly, Venous malformation, Spinal cord compression OMIM:176920
Arima Syndrome
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,... OMIM:243910
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Aspl... ORPHA:210122
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hydrocephalu... OMIM:616546
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Myeloproliferative disorder, Obesity, Right atrial enlargement ORPHA:70591
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, ... ORPHA:2318
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... OMIM:619657
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Neonatal death, Scimitar anomaly... OMIM:608978
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal... ORPHA:185
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left... OMIM:619424
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jau... OMIM:612291
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Abnormal heart morphology, Gait d... ORPHA:2754
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, Polysplenia OMIM:612776
Superficial Siderosis
Cerebellar atrophy, Ataxia, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal ... ORPHA:247245
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Diffuse alveolar hemorrhage, Asplenia, Cervical lymp... OMIM:614034
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Hypertriglyceridemia, Small for gestatio... OMIM:264090
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... ORPHA:90308
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Hypoplasia of th... OMIM:618325
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Hydrocephalus, Micropenis, Hypoplasia of the brainstem, Kinked brainstem, C... OMIM:617822
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Ataxia ORPHA:467166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth... OMIM:616300
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... ORPHA:436252
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Urinary incontinence, Spastic gait, Urinary urgency ORPHA:320365
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:242700
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situ... OMIM:619123
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... OMIM:244400
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... ORPHA:33276
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Ataxia, CNS foam cells, Bone-marrow foam cells, Neurofibrillary t... OMIM:607625
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Cholestasis... OMIM:620233
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Hyperintensity of MRI T2 signal of the spinal cord, Neurogenic blad... ORPHA:79093
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... ORPHA:231160
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... ORPHA:97289
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Complex organic aciduria, ... ORPHA:506
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... OMIM:115197
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Small for gestational age, Ventricular septal d... ORPHA:464311
47,Xyy Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal br... ORPHA:8
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormal pituitary g... ORPHA:314621
Wilson Disease
Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Atypical or... OMIM:277900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Ataxia, Abnormal brainstem MRI signal intensity, Inability to walk, Opti... ORPHA:254930
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Left ventricular hypertrophy, Hypertrophic cardiomyopath... ORPHA:444013
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Distal amyotrophy, Ga... ORPHA:139578
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... ORPHA:906
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Coarctation of aorta, Hypoplastic left heart, Molar tooth sign on M... OMIM:277170
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Ataxia, Inability to walk, Myelopathy, Abnormal spinal cord... ORPHA:139396
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Ina... ORPHA:258
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Urinary incontinence, Myelopathy, Cranial nerv... ORPHA:268882
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Left atrial enlargement, Interst... ORPHA:75249
Treacher-Collins Syndrome
Encephalocele, Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ... ORPHA:861
Cerebellofaciodental Syndrome
Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, Mitral valve prolapse, Cerebel... OMIM:616202
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu... ORPHA:2969
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Listeriosis
Pericarditis, Liver abscess, Ataxia, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intens... ORPHA:533
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, Hypochromic ane... ORPHA:2720
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... OMIM:619371
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... ORPHA:293987
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Cerebellar vermis hypoplasia, Ventricular septal d... OMIM:615948
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Patent foram... OMIM:617746
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel... OMIM:610188
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft OMIM:617542
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Recurrent pneumonia, Elbow flexion contracture, Limb... ORPHA:1900
Niemann-Pick Disease, Type C1
Hepatomegaly, CNS foam cells, Ataxia, Bone-marrow foam cells, Neurofibrillary tangles, Splenomega... OMIM:257220
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Arteriovenous malformation, L... ORPHA:53721
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Meckel Syndrome
Encephalocele, Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic f... ORPHA:564
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Failure to thrive, Ataxia, Ethylmalonic aciduria ORPHA:51188
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal brainstem morphol... ORPHA:370997
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Aplasia of... OMIM:102700
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Pollakisuria, Gait disturbance, Ab... ORPHA:93256
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Cerebellar vermis hypo... OMIM:619476
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Urethral atresia, Hypoplasia ... ORPHA:1896
Tick-Borne Encephalitis
Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Facial palsy, Abnormal brainstem ... ORPHA:297
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxi... OMIM:137440
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Arterial calcification, Right atri... OMIM:614473
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left v... ORPHA:57777
Fraser Syndrome 2
Ureteral agenesis, Hypoplasia of the thymus, Renal hypoplasia, Unilateral renal agenesis OMIM:617666
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Flexion contracture, Dysgenesis of the cerebellar vermis, Small pituitary gland, Mol... OMIM:619479
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominan... OMIM:619036
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he... ORPHA:83471
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Leukopenia, Tubulointerstitial... ORPHA:289390
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... OMIM:612422
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Gait disturbance ORPHA:88619
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... ORPHA:2072
Acute Disseminated Encephalomyelitis
Viral hepatitis, Ataxia, Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology,... ORPHA:83597
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Hydrocephalus, Abnormality... ORPHA:538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Cryptorchid... OMIM:236670
Adrenomyeloneuropathy
Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Primary adrena... ORPHA:139399
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes ORPHA:563609
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... ORPHA:1677
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Facial palsy, Hypothyroid... OMIM:620186
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Ventricular septal defect, Bilateral cryptorchidism, Epispadias, Patent... ORPHA:434179
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Ovarian neoplasm, Arteriovenous malformation, Lymphangioma, Neoplasm of the... ORPHA:137608
Osteogenesis Imperfecta
Abnormal endocardium morphology, Small for gestational age, Ataxia, Cerebral hemorrhage, Hydrocep... ORPHA:666
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion cont... ORPHA:261537
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement OMIM:617047
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Atrial septal defect, Right atrial enl... OMIM:615219
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Venous malformation OMIM:612918
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Abnormal spinal cord morphology, Gait ataxia, Gait disturbance, Abnormal sensory nerve co... ORPHA:88628
Full Nf2-Related Schwannomatosis
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Hydrocephalus, Unsteady gait, Abnormal... ORPHA:637
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Tip-toe gait, Gait disturbance ORPHA:83629
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion cont... ORPHA:261552
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney, P... ORPHA:221120
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Myositis, Dextrocardia, C... ORPHA:3310
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Flexion contracture... OMIM:614008
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion cont... ORPHA:2152
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Ur... OMIM:273395
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:610217
Friedreich Ataxia 2
Abnormal medulla oblongata morphology, Ataxia, Abnormality of the dorsal column of the spinal cor... OMIM:601992
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures of the lar... ORPHA:96123
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral ner... ORPHA:542643
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Abnormal cranial nerve... ORPHA:624
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Achondroplasia
Brain stem compression, Hydrocephalus, Pulmonary hypoplasia, Death in infancy OMIM:100800
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Progressive Non-Fluent Aphasia
Neurofibrillary tangles, Abnormal lower motor neuron morphology, Stroke ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Cachexia, Testicular neoplasm, Enlarged polycystic ova... ORPHA:744
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Optic neuropathy, Precocious atherosclerosis, Abnormal internal carotid artery... ORPHA:391665
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Alzheimer Disease 3
Neurofibrillary tangles, Gait disturbance, Optic ataxia OMIM:607822
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Mosaic Trisomy 20
Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dysplastic tricuspid ... ORPHA:1724
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Abnormal autonomic nervous system physiology, Akinesia OMIM:616840
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... ORPHA:276280
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Clapo Syndrome
Lymphangioma, Varicose veins, Failure to thrive, Venous malformation ORPHA:168984
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Brain stem compression OMIM:602080
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Microphthalmia With Limb Anomalies
Death in infancy, Venous insufficiency, Cryptorchidism, Hydrocephalus, Optic atrophy, Horseshoe k... ORPHA:1106
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesio... ORPHA:221061
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Menkes Disease
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Arterial stenosis, In... ORPHA:565
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles OMIM:608907
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles OMIM:606688
Supranuclear Palsy, Progressive, 2
Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Retrocollis OMIM:609454
Supranuclear Palsy, Progressive, 1
Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Retrocollis OMIM:601104
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles OMIM:607485
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Vascular dilatation ORPHA:198
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia OMIM:117300
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Hypomimic face ORPHA:199351
Norrie Disease
Diabetes mellitus, Cachexia, Venous insufficiency, Cryptorchidism, Optic atrophy, Delayed puberty... ORPHA:649
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Alzheimer Disease 4
Neurofibrillary tangles OMIM:606889
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wa... ORPHA:285
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Corneal Dystrophy, Fleck
OMIM:121850

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 Pikfyve

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 Pikfyve.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deletion of PIKfyve alters alveolar macrophage populations and exacerbates allergic inflammation in mice. The EMBO journal (May 2017) Pikfyvetm1b(EUCOMM)Hmgu PMC5470042

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pikfyvetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pikfyvetm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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