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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, Broad-based gait, B lymphocyt... OMIM:619705
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P... OMIM:620642
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Cerebellar atrophy ORPHA:89844
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Abnormality of thyroid physiology, Anemia, Abnormal atriove... ORPHA:563
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy OMIM:614022
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Coronary Arterial Fistula
Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o... ORPHA:2041
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Truncal ataxia, Right ventricular dilatation, Limb-girdle muscular dystrophy,... ORPHA:369847
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Anterior hypopituitarism, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Torticollis, Abnorma... ORPHA:79328
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic pulmonary valve, Hydrocephalus, Right ventricular dilatation... OMIM:612863
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu... OMIM:300400
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Intrahepatic biliary atresia, Camptodactyly, Re... OMIM:614815
Slc35A2-Cdg
Transient nephrotic syndrome, Elevated circulating thyroid-stimulating hormone concentration, Ina... ORPHA:356961
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... ORPHA:1532
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy, Varicose veins, Neutropenia, ... OMIM:612541
Joubert Syndrome 32
Large for gestational age, Molar tooth sign on MRI, Hypertrophic cardiomyopathy, Abnormal cerebel... OMIM:617757
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Jaundice, Hepatomegaly, Death in childhood, Polycystic kidney dysplasia, I... OMIM:214110
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Polycystic kidney dysplasia, Ataxia, Flexion co... OMIM:617562
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Vascular dilatation, Unilater... OMIM:216360
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Stroke ORPHA:99105
Joubert Syndrome 4
Abnormal renal medulla morphology, Molar tooth sign on MRI, Nephronophthisis, Elongated superior ... OMIM:609583
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial... OMIM:306955
Mirage Syndrome
Anemia, Hypospadias, Hydrocephalus, Adrenal hypoplasia, Lymphopenia, Decreased body weight, Aspir... OMIM:617053
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Decreased body weigh... ORPHA:99852
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Joubert Syndrome 3
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar ver... OMIM:608629
Joubert Syndrome 14
Optic atrophy, Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker m... OMIM:614424
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Emphysema, Atelectasis, Vascular dilatation, Accessory spleen, Deat... OMIM:613177
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Muscular dystrophy, Occipital encephalocele, Cerebellar cyst, Abnormal brainstem m... ORPHA:370959
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Urinary incontinence, Broad-based gai... ORPHA:206448
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Stillbirth, Truncu... OMIM:615415
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Recurrent respiratory infections, Right atrial enlargement, Failure to t... ORPHA:99106
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary artery aneurysm, Death in childhood, Emphysema, Arteri... OMIM:614437
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Polycystic kidney dy... ORPHA:84064
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia, Splenomegaly OMIM:617767
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Death in childhood, Impaired lymphocyte transformation with phytohem... OMIM:243150
Coach Syndrome 3
Molar tooth sign on MRI, Nephronophthisis, Anemia, Portal fibrosis, Ataxia, Stage 5 chronic kidne... OMIM:619113
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Atrial Septal Defect, Coronary Sinus Type
Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery from the ma... ORPHA:99104
Gracile Bone Dysplasia
Hydrocephalus, Death in infancy, Asplenia, Failure to thrive, Hypoplastic spleen, Micropenis OMIM:602361
Stormorken Syndrome
Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, Thromb... OMIM:185070
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Pulmonary ... OMIM:617022
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Foot joint contracture, Ascending tubular... ORPHA:444072
Spinocerebellar Ataxia Type 1
Optic atrophy, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, Abnormality of ... ORPHA:98755
Joubert Syndrome 7
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Brainstem dysplasia, Renal cyst, Ataxia... OMIM:611560
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Anencephaly, Dandy-Walker malforma... OMIM:614175
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Immunodeficiency 9
Difficulty walking, Abnormal natural killer cell count, Hypoplasia of the thymus, Death in infanc... OMIM:612782
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydronephrosis OMIM:617127
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:616781
Joubert Syndrome 6
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar ver... OMIM:610688
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Multiple renal cysts, Splenomegaly, Optic atrophy, Tricuspid atr... ORPHA:567
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Ataxia ORPHA:263410
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hepatomegaly, Abnormal brainstem morphology, Hypertrophic cardiomyopathy, Generali... ORPHA:79279
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Re... OMIM:618161
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Hypoplasia of the thymus ORPHA:40366
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Accessory spleen, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, ... OMIM:619306
Joubert Syndrome 15
Molar tooth sign on MRI, Nephronophthisis, Ataxia, Micropenis, Exencephaly OMIM:614464
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Abnormal brainstem MRI signal intensity, Increased red blood c... ORPHA:68
Joubert Syndrome 37
Molar tooth sign on MRI, Hepatomegaly, Cerebellar vermis hypoplasia, Decreased testicular size, O... OMIM:619185
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Decreased body weight, Obesity, Dysmetria OMIM:300804
Joubert Syndrome 16
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst OMIM:614465
Coach Syndrome 2
Molar tooth sign on MRI, Portal fibrosis, Hydrocephalus, Cerebellar vermis hypoplasia, Congenital... OMIM:619111
Joubert Syndrome 2
Molar tooth sign on MRI, Nephronophthisis, Dysgenesis of the cerebellar vermis, Elongated superio... OMIM:608091
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ... OMIM:265380
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Optic atrophy ORPHA:411493
Japanese Encephalitis
Pulmonary edema, Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the spinal... ORPHA:79139
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Cerebellar atrophy, Ureteral stenosis, Right atrial isomerism, Ascending tu... OMIM:270100
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Renal cyst OMIM:614970
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Aganglionic megacolon, Dextrocardia, Encephalocele, Hydrocephalus, Cereb... ORPHA:220493
Atrial Septal Defect, Ostium Secundum Type
Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Pn... ORPHA:99103
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Failure to thrive, Abnormal cerebellum morphology ORPHA:255182
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Inability to walk by childhood/adolescence, Distal lower limb muscle weakness, Ste... ORPHA:99947
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Recurrent respiratory infections, Primu... ORPHA:1478
Lennox-Gastaut Syndrome
Abnormal brainstem morphology, Falls ORPHA:2382
Ataxia-Telangiectasia
Delayed puberty, Progressive cerebellar ataxia, Recurrent lower respiratory tract infections, Ina... OMIM:208900
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal he... ORPHA:99776
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia, Optic disc pallor OMIM:617121
Joubert Syndrome 22
Renal hypoplasia, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Hematuria, Emphysema, Lymphadenopathy, Abnormal heart valv... ORPHA:36412
Joubert Syndrome 30
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dyspl... OMIM:617622
Joubert Syndrome 9
Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI, Hepatic fibrosis OMIM:612285
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Abnormal brainstem morphology, Howell-Jolly bodies, Dysdia... OMIM:301310
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular hype... ORPHA:70589
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger, Cerebellar... OMIM:619562
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Splenomegaly, Cystic renal dysplasia, Abnormal cardiac sept... OMIM:249000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Supernumer... ORPHA:397715
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Cerebellar vermis h... ORPHA:220497
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI OMIM:617761
Arima Syndrome
Tubulointerstitial fibrosis, Ataxia, Renal sodium wasting, Stage 5 chronic kidney disease, Hepati... OMIM:243910
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Proteus Syndrome
Splenomegaly, Lymphangioma, Venous malformation, Spinal cord compression OMIM:176920
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Ovarian cyst, Splenomegaly, A... OMIM:188400
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Myeloproliferative disorder, Obesity, Right atrial enlargement ORPHA:70591
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polycystic ... OMIM:616546
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Aganglionic megacolon, ... ORPHA:210122
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Cerebellar vermis h... ORPHA:2318
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly... OMIM:612387
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Meacham Syndrome
Enlarged kidney, Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transpos... OMIM:608978
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Hypoplasia of the diaphragm, Abnormal... ORPHA:185
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper r... OMIM:263000
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Mediastinal lymphade... ORPHA:2302
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Hepatomegaly, Prolonged neonatal jaundice, Obes... OMIM:612291
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Bilateral cryptorchidism, Gait disturbance... ORPHA:2754
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture ORPHA:171719
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Increased serum testosterone level, Long penis, Hydrocephalus,... OMIM:264090
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Limb ataxia, Arteriovenous malformation, Abnormal ver... ORPHA:247245
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent bronchopu... OMIM:242700
Klippel-Trénaunay Syndrome
Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency, Peripheral ar... ORPHA:90308
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Coombs-positive hemol... OMIM:614034
Lissencephaly 9 With Complex Brainstem Malformation
Enlarged tectum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Hypoplasia of th... OMIM:618325
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Peritoneal abscess, Abnormal ductus choledochus morphology, Hypoplas... ORPHA:436252
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Cerebellar vermis hypoplasia, Camptodactyly, Asplenia, Pulmonic st... OMIM:619123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation, Renal cyst, Renal ... OMIM:616300
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Pleural effusion, Kinked brainstem, Camptodactyly, Cere... OMIM:617822
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Chronic b... OMIM:613490
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydroceph... ORPHA:163961
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Ataxia, Abnormal brainstem morphology ORPHA:467166
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Asplenia, Communicatin... OMIM:244400
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Abnormality of the spleen, Weight loss, Abnormali... ORPHA:33276
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Foam cells, Hepatomegaly, Death in childhood, Bone-marrow foam ... OMIM:607625
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Vasculitis, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abn... ORPHA:906
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Urinary incontinence, Cervical myelopathy, Venous malformation... ORPHA:79093
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Abnormal brainstem morphology,... ORPHA:464311
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Pro... ORPHA:97289
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Aortic root aneurysm, Transient ischemic attack, Aortic dissection... ORPHA:231160
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Abnormal brainstem MRI signal intensity, Difficulty walking, Inability to walk, Di... ORPHA:254930
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Abnormally low T cell receptor excision circle level, B lymphocytopenia, Lymphopeni... OMIM:602450
Leigh Syndrome
3-Methylglutaconic aciduria, Generalized aminoaciduria, Cerebellar atrophy, Ataxia, Complex organ... ORPHA:506
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Increased serum testosterone level, Hypospadias, Abnormal br... ORPHA:8
Duplication Of The Pituitary Gland
Abnormality of masseter muscle, Encephalocele, Decreased body weight, Abnormal pituitary gland mo... ORPHA:314621
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy, Abnormal autonomic nervous system physiology, Gait disturbance, Abnormal spina... ORPHA:139578
Gangliocytoma
Spinal cord tumor, Syringomyelia, Adrenocorticotropic hormone excess, Abnormal brainstem morpholo... ORPHA:251937
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Failure to thrive, Coarctation of aorta, O... OMIM:277170
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Hypertrophic cardiomyopathy, Failure to thrive, Right ve... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly... OMIM:115197
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Facial myokymia, Hamstring contractures, Abnormal brainste... ORPHA:139396
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity, Atelectasis... ORPHA:258
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Syringomyelia, Abnormality of the musculature of the ... ORPHA:268882
Cerebellofaciodental Syndrome
Ventricular septal defect, Hypoplasia of the pons, Mitral valve prolapse, Hypoplasia of the midbr... OMIM:616202
Lymphangioleiomyomatosis
Pneumothorax, Optic atrophy, Hematuria, Emphysema, Atelectasis, Chylopericardium, Chylothorax, Re... ORPHA:538
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Proteus-Like Syndrome
Bronchogenic cyst, Venous insufficiency, Hydrocephalus, Communicating hydrocephalus, Splenomegaly... ORPHA:2969
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Encephalocele, Hypoplasia of penis, Thyroid hypoplasia, Hypopl... ORPHA:861
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Emphysema, Patent ductus arteriosus, Right aortic arch, Recurrent upper ... ORPHA:95430
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss ORPHA:1164
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Listeriosis
Myocarditis, Acute kidney injury, Abnormal brainstem MRI signal intensity, Jaundice, Liver absces... ORPHA:533
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Hydrocephalus, Hypochromic anemia, Ataxia, Abnormality of neutroph... ORPHA:2720
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... OMIM:602782
Orofaciodigital Syndrome Xiv
Epispadias, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Dandy... OMIM:615948
Sweeney-Cox Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Cerebellar hy... OMIM:617746
Wilson Disease
Face of the giant panda sign, Portal fibrosis, Splenomegaly, Hepatic steatosis, Jaundice, Decreas... OMIM:277900
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Hepatomegaly, Recurrent respiratory infections, Stroke,... ORPHA:75249
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Aplasia/Hypoplasia of the cer... OMIM:610188
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr... OMIM:215250
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Torticollis, Arterial tortuosity, Dural ectasia, Aortic root aneurysm, A... OMIM:614816
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired tandem gait, Vascular dilatation, Aortic aneurysm, Elbow flexion contracture, EMG: myopa... ORPHA:1900
Ellis Van Creveld Syndrome
Epispadias, Situs inversus totalis, Acute leukemia, Atrioventricular canal defect, Hydroureter, D... ORPHA:289
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Hydrocephalus, Unsteady gait OMIM:617542
Ethylmalonic Encephalopathy
Failure to thrive, Abnormal brainstem MRI signal intensity, Ataxia, Ethylmalonic aciduria ORPHA:51188
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Portal vein thrombosis, Spleno... OMIM:616028
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Lymphopenia, Cerebellar atrophy, Hypoplasia of the pons, Pulmonary hypoplasia, Ata... OMIM:619708
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Foam cells, Bone-marrow foam cells, Gait ataxia, Prolonged ... OMIM:257220
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Urinary bladder sphincter dysfunct... ORPHA:53721
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of... OMIM:102700
Meckel Syndrome
Optic atrophy, Situs inversus totalis, Ureteral duplication, Anencephaly, Encephalocele, Accessor... ORPHA:564
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ataxia, Inability to walk OMIM:617563
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hypoglycosylation o... ORPHA:370997
Common Variable Immunodeficiency
Emphysema, Lymphadenopathy, Recurrent bronchitis, Vasculitis, Bronchiectasis, Abnormality of the ... ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Emphysema, Abnormal intrahepatic bile duct morphology, Coronary artery athe... ORPHA:363618
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Me... OMIM:181000
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Anterior hypopituitarism, Ves... ORPHA:1896
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Abn... ORPHA:220386
Hypophosphatasia
Failure to thrive in infancy, Emphysema, Anemia ORPHA:436
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Abn... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Abn... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Inability to walk, Abn... ORPHA:93924
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Pollakisuria, Abnormal autonomic nervous system physiology, Gait d... ORPHA:93256
Joubert Syndrome 38
Molar tooth sign on MRI, Decreased response to growth hormone stimulation test, Inferior cerebell... OMIM:619476
Gerstmann-Straussler Disease
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Neurofibrillary tangles, Weight los... OMIM:137440
Tick-Borne Encephalitis
Abnormal brainstem MRI signal intensity, Abnormal glossopharyngeal nerve morphology, Myelitis, Ab... ORPHA:297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Pulmo... ORPHA:2255
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia, Cor pulmonale OMIM:247610
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Asplenia, Hypo... OMIM:240300
Meningioma
Urinary incontinence, Upper limb muscle weakness, Decreased circulating cortisol level, Ataxia, A... ORPHA:2495
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor... ORPHA:227982
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Atelectasis, Chronic hemolytic anemia, Death in childhood, Microvesicular hepatic s... OMIM:618278
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Cerebral berry aneurysm OMIM:210050
Birt-Hogg-Dubé Syndrome
Pneumothorax, Emphysema, Pulmonary sequestration, Parathyroid adenoma, Medullary thyroid carcinoma ORPHA:122
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Chylothorax, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contractur... OMIM:619036
Fraser Syndrome 2
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Unilateral renal agenesis OMIM:617666
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor... ORPHA:227990
Primary Sjögren Syndrome
Normochromic anemia, Bronchitis, Biliary cirrhosis, Abnormal spinal cord morphology, Leukopenia, ... ORPHA:289390
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Hypospadias, Small pituitary gland,... OMIM:619479
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Fabry Disease
Abnormal endocardium morphology, Optic atrophy, Delayed puberty, Abnormal aortic valve morphology... ORPHA:324
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity, Gait disturbance ORPHA:88619
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlarge... ORPHA:57777
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Delayed puberty, Cachexia, Splenomegaly, Pancytopenia, Hydrocephalus,... ORPHA:2072
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Myelitis, Viral hepatitis, Abnormal cerebellum morpholog... ORPHA:83597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Muscular dystrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia... OMIM:236670
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Nephrocalcinosis, Cardiomegaly, Coronary artery... OMIM:614473
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... OMIM:618913
Isolated Anencephaly
Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Abnormal brainstem MRI signal intensity, Gait disturbance ORPHA:83629
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Nocardiosis
Pneumothorax, Abnormality of the adrenal glands, Liver abscess, Emphysema, Pleuritis, Abnormal he... ORPHA:31204
Adrenomyeloneuropathy
Spastic gait, Distal lower limb muscle weakness, Urinary incontinence, Adrenocortical abnormality... ORPHA:139399
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Accessory spleen, Interrupted aortic arch, Tricuspid stenosi... OMIM:164280
Orofaciodigital Syndrome Type 14
Epispadias, Molar tooth sign on MRI, Dandy-Walker malformation, Bilateral cryptorchidism, Dilated... ORPHA:434179
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Patent foramen ovale, Hypoplastic nipples, Facial palsy, Thyroi... OMIM:620186
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Multiple bladder diverticula, Emphysema, Vascular dilatation, Vesicoureteral reflux... ORPHA:90349
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Prim... OMIM:269200
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Ovarian neoplasm, Arteriovenous malformation, Venous insufficiency... ORPHA:137608
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Hypercalciuria, Biliary cirrhosis, Recurrent ... OMIM:219700
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Restrictive cardiomyopathy, Aortic aneurysm, Right atrial enlarge... OMIM:612422
Von Willebrand Disease
Muscle hemorrhage, Venous insufficiency, Abnormal mitral valve morphology, Thrombocytopenia, Micr... ORPHA:903
Osteogenesis Imperfecta
Abnormal endocardium morphology, Syringomyelia, Aortic aneurysm, Hypercalciuria, Aortic root aneu... ORPHA:666
Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Dilatation of an abdominal artery, Dural ectasia, Aortic ane... ORPHA:558
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Abnormal right ventricle morphology, Spina bifida occ... ORPHA:500095
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:261537
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Aortic root aneurysm,... ORPHA:284979
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Enlarged lacrimal glands, Diabetes insipidu... ORPHA:797
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Failure to thrive, Myocardi... OMIM:620519
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Anemia, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothor... OMIM:130050
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Tethered cord, Renal hypoplasia, Splenomegaly, Spinal dysraphism OMIM:612918
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Gait ataxia, Gait disturbance, Abnormal spinal cord morphology, Flexion contractur... ORPHA:88628
Full Nf2-Related Schwannomatosis
Spinal cord tumor, Hydrocephalus, Facial palsy, Abnormal cerebellum morphology, Bilateral vestibu... ORPHA:637
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:261552
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Pseudoaminopterin Syndrome
Hydrocephalus, Patent foramen ovale, Asplenia, Posterolateral diaphragmatic hernia, Cryptorchidis... ORPHA:221120
Tetrasomy 9P
Jaundice, Dextrocardia, Juxtaductal coarctation of the aorta, Biliary atresia, Myositis, Hydrocep... ORPHA:3310
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Type I... OMIM:620365
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Abnormal vena cava morphology, Pleural effusion, ... ORPHA:1677
Agammaglobulinemia, X-Linked
Neutropenia, Recurrent lower respiratory tract infections, Anemia, B lymphocytopenia, Hepatocellu... OMIM:300755
Netherton Syndrome
Emphysema, Ectopic kidney, Hydronephrosis, Recurrent respiratory infections, Aminoaciduria ORPHA:634
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Stroke, Hypertrophic cardiomyopathy, Right atrial enlargement OMIM:617047
Mowat-Wilson Syndrome
Urinary incontinence, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Ataxia... ORPHA:2152
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Communicating hydrocephalus, Right atrial enlargement, Atrial septa... OMIM:615219
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Ischemic stroke, Emphysema, Unilateral renal agenesis, Optic nerve hypoplasia, Tra... ORPHA:500150
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Neurofibrillary tangles, Dysm... OMIM:610217
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Hydrocephalus, Asplenia, Pulmonary hypoplasia, Urethral atresia,... OMIM:273395
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona... OMIM:615067
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus, Contractures of the lar... ORPHA:96123
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Ascending tubular aorta aneurysm, Bladder diverticulu... OMIM:219100
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Anemia, Pancytopenia, Venous insufficiency, Abnor... ORPHA:542643
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Anencephaly, Spina bifida occulta, Encephalocele... ORPHA:2369
Proteus Syndrome
Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Cachexia, Lymphangioma, Splenomeg... ORPHA:744
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Right atrial enlargement, Failure to thrive, Fle... OMIM:614008
Achondroplasia
Death in infancy, Pulmonary hypoplasia, Hydrocephalus, Brain stem compression OMIM:100800
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormality of the ... OMIM:601992
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Arteriovenous malformation, Intracranial hemorrhage, Venous in... ORPHA:624
Marfan Syndrome
Pneumothorax, Tricuspid valve prolapse, Emphysema, Mitral annular calcification, Dural ectasia, A... OMIM:154700
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Meier-Gorlin Syndrome 1
Breast hypoplasia, Emphysema, Camptodactyly, Death in infancy, Failure to thrive, Flexion contrac... OMIM:224690
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism, Emphysema, Failure to thrive OMIM:613804
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Right atrial enlargement ORPHA:555877
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Cirrhosis, Emphysema, Anemia, Pancytopenia, Cholestas... OMIM:613658
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Deposits immunoreactive to beta-amyloid protein, Neurofibrillary tangles ORPHA:1020
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Tendon xanthomatosis, Premature arteriosclerosis, Hypercholesterolemi... ORPHA:391665
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Mosaic Trisomy 20
Cryptorchidism, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dysplastic tri... ORPHA:1724
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Alzheimer Disease 3
Gait disturbance, Neurofibrillary tangles, Optic ataxia OMIM:607822
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Autosomal Dominant Cutis Laxa
Emphysema, Unilateral renal agenesis, Aortic aneurysm, Bronchiolitis, Coarctation of aorta, Dilat... ORPHA:90348
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Failure to thr... OMIM:616835
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Ventricular septal defect, Emphysema OMIM:123700
Milroy Disease
Varicose veins, Abnormal venous morphology, Hydrocele testis ORPHA:79452
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Neurofibrillary tangles, Abnormal autonomic nervous system physiology OMIM:616840
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebr... ORPHA:276280
Keutel Syndrome
Emphysema, Recurrent bronchitis, Miscarriage, Pulmonary artery hypoplasia, Pulmonic stenosis, Ven... OMIM:245150
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Brain stem compression OMIM:602080
Clapo Syndrome
Failure to thrive, Varicose veins, Lymphangioma, Venous malformation ORPHA:168984
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly OMIM:601374
Sotos Syndrome
Ureteral duplication, Prolonged neonatal jaundice, Abnormal heart morphology, Congenital posterio... ORPHA:821
Microphthalmia With Limb Anomalies
Optic atrophy, Camptodactyly of 2nd-5th fingers, Venous insufficiency, Hydrocephalus, Death in in... ORPHA:1106
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Familial Cerebral Cavernous Malformation
Venous malformation, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesio... ORPHA:221061
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Menkes Disease
Abnormal carotid artery morphology, Vascular dilatation, Venous insufficiency, Prolonged neonatal... 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, Gait imbalance, Falls, Retrocollis, Neurofibrillary tangles OMIM:609454
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Falls, Retrocollis, Neurofibrillary tangles OMIM:601104
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles OMIM:607485
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Venous insufficiency, Aortic root aneurysm, Ascending tubula... ORPHA:285
Occipital Horn Syndrome
Jaundice, Vascular dilatation, Venous insufficiency, Cholestasis, Bladder diverticulum, Hepatitis ORPHA:198
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles OMIM:117300
Adult-Onset Dystonia-Parkinsonism
Hypomimic face, Neurofibrillary tangles ORPHA:199351
Norrie Disease
Optic atrophy, Delayed puberty, Venous insufficiency, Cachexia, Failure to thrive, Diabetes melli... 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
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal 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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