Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Corneal Dystrophy, Fleck

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

Disease Similarity of
Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle fib... OMIM:253700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis, Neutropenia, B lymphoc... OMIM:619705
Microphthalmia, Syndromic 9
Cryptorchidism, Hydronephrosis, Single ventricle, Ventricular septal defect, Right aortic arch wi... OMIM:601186
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Cerebellar atrophy, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorc... OMIM:612541
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal brainstem morpholog... ORPHA:99852
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular dilatation, Abnormal atrioventricular valve morphology,... ORPHA:563
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... ORPHA:2041
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy, Truncal ataxia, Difficult... ORPHA:369847
Familial Dilated Cardiomyopathy
Failure to thrive, Right ventricular dilatation, Left ventricular hypertrophy ORPHA:217607
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Rhombencephalosynapsis, Abnormal midbrain mo... ORPHA:280195
Pulmonary hypoplasia, Abnormal lung lobation, Right ventricular dilatation, Ureteral hypoplasia, ... ORPHA:79328
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Right ventricular dilatation, Patent ductus arteriosus, Atrial septal defect, Dysp... OMIM:612863
Atrophy/Degeneration affecting the brainstem, Tetralogy of Fallot, Cerebellar atrophy, Failure to... ORPHA:356961
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Optic nerve dysplasia, Intrahepatic biliary dysgenesis, Jaundice, Polycystic kidn... OMIM:214110
Joubert Syndrome 32
Large for gestational age, Molar tooth sign on MRI, Hypertrophic cardiomyopathy, Ataxia, Abnormal... OMIM:617757
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Ataxia, Abnormal cerebellum morphology, Hydrocephalus, Cerebellar ... ORPHA:1532
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Meckel Syndrome, Type 4
Renal cyst, Atrial septal defect, Bile duct proliferation, Molar tooth sign on MRI, Anencephaly, ... OMIM:611134
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD4-positive hel... OMIM:617241
Meckel Syndrome 13
Flexion contracture, Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI, Ata... OMIM:617562
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:615415
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, T lymphocytopenia, Pneumonia, Hepatomegaly, Impaired lymphocyte transformati... OMIM:300400
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ab... OMIM:609583
Joubert Syndrome 18
Molar tooth sign on MRI, Camptodactyly, Horseshoe kidney, Ventricular septal defect OMIM:614815
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextroc... OMIM:306955
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Adult Krabbe Disease
Abnormal pons morphology, Lower limb muscle weakness, Abnormal midbrain morphology, Ataxia, Upper... ORPHA:206448
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Congenital muscular dystrophy, Abnormal brainstem morphology, Hypoglycos... ORPHA:370959
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Decreased body weight, Leukopenia, Patent ductus arter... OMIM:617053
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Failure to... OMIM:603554
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Torticollis, Cardiomegaly, Hypoplasia of the thymus,... OMIM:617022
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Syndromic Diarrhea
Hepatoblastoma, Hypothyroidism, Polycystic kidney dysplasia, Ventricular septal defect, Hypoplasi... ORPHA:84064
Coach Syndrome 3
Stage 5 chronic kidney disease, Molar tooth sign on MRI, Ataxia, Anemia, Portal fibrosis, Renal i... OMIM:619113
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right ventricular dilatation, Pulmonary artery dilatation, Recurrent re... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Primary Ciliary Dyskinesia
Hydrocephalus, Persistent left superior vena cava, Respiratory tract infection, Situs inversus to... ORPHA:244
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Interface hepatitis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocy... OMIM:243150
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Lacticaciduria, Hypothyroidism, Prot... ORPHA:699
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Joubert Syndrome 7
Renal cyst, Molar tooth sign on MRI, Ataxia, Hypoplasia of the brainstem, Brainstem dysplasia, Ne... OMIM:611560
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Pneumonia, Abnormal midbrain morphology, Respiratory tract infection, A... ORPHA:68
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly,... ORPHA:79279
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Cryptorchidism, Abnormal midbrain morphology, Hydr... ORPHA:444072
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Ataxia ORPHA:263410
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Hydronephrosis, Molar tooth sign on MRI, Ataxia, Renal fibrosis, Mu... OMIM:618161
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Pneumonia, Anoma... ORPHA:99104
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:616781
22Q11.2 Deletion Syndrome
Hypothyroidism, Tricuspid atresia, Cryptorchidism, Abnormal aortic valve morphology, Polycystic k... ORPHA:567
Joubert Syndrome 37
Micropenis, Hydronephrosis, Molar tooth sign on MRI, Cryptorchidism, Cerebellar vermis hypoplasia... OMIM:619185
Joubert Syndrome 2
Renal cyst, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Dysgenesis of the ce... OMIM:608091
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 16
Renal cyst, Molar tooth sign on MRI, Dandy-Walker malformation, Nephronophthisis, Encephalocele OMIM:614465
Coach Syndrome 2
Molar tooth sign on MRI, Congenital hepatic fibrosis, Portal fibrosis, Hydrocephalus, Hepatic fib... OMIM:619111
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular ... OMIM:265380
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Accessory spleen, Dilated fourth ventricle, Cerebellar hypoplasia, Rhombence... OMIM:619306
Viss Syndrome
Hypothyroidism, Carotid artery tortuosity, Hydronephrosis, Double outlet right ventricle, Macrogl... OMIM:619472
Joubert Syndrome 3
Stage 5 chronic kidney disease, Molar tooth sign on MRI, Ataxia, Nephronophthisis, Elongated supe... OMIM:608629
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Failure to thrive, Asplenia, Hydrocephalus OMIM:602361
Joubert Syndrome 15
Micropenis, Nephronophthisis, Molar tooth sign on MRI, Ataxia OMIM:614464
Joubert Syndrome 6
Stage 5 chronic kidney disease, Thickened superior cerebellar peduncle, Bile duct proliferation, ... OMIM:610688
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Orofaciodigital Syndrome Xv
Hydronephrosis, Molar tooth sign on MRI OMIM:617127
Joubert Syndrome With Ocular Defect
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Aganglion... ORPHA:220493
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Cholestasis, Atrial septal defect, Bile duc... OMIM:208540
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hypospadias OMIM:614175
Joubert Syndrome 1
Renal cyst, Occipital myelomeningocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Dy... OMIM:213300
Joubert Syndrome 30
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dyspl... OMIM:617622
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal brainstem morphology, I... ORPHA:370022
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Skeletal muscle atrophy, Hyperint... ORPHA:79139
Mosaic Trisomy 9
Abnormal heart valve morphology, Horseshoe kidney, Patent ductus arteriosus, Endocardial fibroela... ORPHA:99776
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Ataxia OMIM:617121
Joubert Syndrome 22
Renal hypoplasia, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Orofaciodigital Syndrome Vi
Failure to thrive, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:277170
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Joubert Syndrome 9
Molar tooth sign on MRI, Stage 5 chronic kidney disease, Encephalocele, Hepatic fibrosis OMIM:612285
Cach Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Flexi... ORPHA:135
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Foot dorsiflexor weakness, Flexion contracture, Hand muscle weakness, Inability to walk by childh... ORPHA:99947
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... OMIM:156810
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Molar tooth sign on MR... ORPHA:397715
Joubert Syndrome With Renal Defect
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Aganglion... ORPHA:220497
Lennox-Gastaut Syndrome
Falls, Abnormal brainstem morphology ORPHA:2382
Arima Syndrome
Occipital meningocele, Nephronophthisis, Hepatic steatosis, Dilated fourth ventricle, Molar tooth... OMIM:243910
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Right ventricular dilatation, Pneumonia ORPHA:99103
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI OMIM:617761
Proteus Syndrome
Venous malformation, Spinal cord compression, Splenomegaly, Lymphangioma OMIM:176920
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextroc... OMIM:270100
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Aganglion... ORPHA:2318
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Right ventricular dilatation, Obesity, Myeloproliferative disorder ORPHA:70591
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Hydronep... ORPHA:210122
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger, Overweight... OMIM:619562
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst OMIM:614970
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Death in infan... OMIM:608978
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Molar tooth sign on MRI, Anencephaly, Congenital diaphragmatic ... OMIM:616546
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dandy-Walker malformation, Agenesis of cerebellar vermis, Hydrocep... ORPHA:163961
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus OMIM:614120
Brain stem compression, Hydrocephalus OMIM:100800
Hypocomplementemic Urticarial Vasculitis
Emphysema, Abnormal heart valve morphology, Hematuria, Proteinuria, Splenomegaly, Pleural effusio... ORPHA:36412
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Digeorge Syndrome
Unilateral renal agenesis, Hypothyroidism, Hydronephrosis, Ovarian cyst, Anemia, Ventricular sept... OMIM:188400
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Obesity, Hepatomegaly, Ataxia, Prolonged neonat... OMIM:612291
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Hematuria, Patent ductus arteriosus, Atri... ORPHA:90308
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Renal tubular acidosis, Abnormal brainstem morphology, Hypertrophic cardi... ORPHA:70474
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Ataxia, Abnormal heart morphology, Failure to thrive, Bilateral cryptorc... ORPHA:2754
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Hematuria, Proteinuria, Thrombocytosis, Coombs-positive hemolytic an... OMIM:614034
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Venous insufficiency, Abnormality of the s... ORPHA:33276
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal defect, Asplenia,... OMIM:619123
Combined Immunodeficiency-Enteropathy Spectrum
Hashimoto thyroiditis, Autoimmune hemolytic anemia, Hepatitis, Peritoneal abscess, Congenital pul... ORPHA:436252
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Hand muscle atrophy, Myelomeningocele, Pneumonia, Syringomyelia, Ataxia, Upper lim... ORPHA:1136
Meckel Syndrome, Type 1
Occipital encephalocele, Abnormality of the ureter, Accessory spleen, Patent ductus arteriosus, B... OMIM:249000
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Failure to thrive, Aplasia of... OMIM:242700
T lymphocytopenia, Female hypogonadism, Leukemia, Decreased proportion of CD4-positive helper T c... OMIM:208900
47,Xyy Syndrome
Cerebellar dysplasia, Abnormal brainstem morphology, Micropenis, Cryptorchidism, Increased serum ... ORPHA:8
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Abnormal brainstem morphology, Small for gestational age, ... ORPHA:464311
Foix-Alajouanine Syndrome
Urinary retention, Arteriovenous fistula, Functional abnormality of the bladder, Hyperintensity o... ORPHA:79093
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Prominent veins on trunk, Primary hype... ORPHA:97289
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Encephalocele, Patent ductus arteriosus, Cryptorchidism, Renal hypoplasia, Molar toot... OMIM:616300
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Duplication Of The Pituitary Gland
Decreased body weight, Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormality ... ORPHA:314621
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Kinked brainstem, Micropenis, Cerebellar hypoplasia, Hypoplasia of the brai... OMIM:617822
Bronchopulmonary Dysplasia
Emphysema, Right ventricular hypertrophy, Small for gestational age, Pulmonary sequestration, Abn... ORPHA:70589
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ataxia, Upper limb muscle... ORPHA:254930
Adrenocorticotropic hormone excess, Syringomyelia, Abnormal brainstem morphology, Pituitary prola... ORPHA:251937
Sarcoidosis, Susceptibility To, 2
Emphysema, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, Pleural eff... OMIM:612387
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Failure to thrive, Abnormal brainstem MRI signal intensity, Right ve... ORPHA:444013
Superficial Siderosis
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Abnormal vertebral artery morph... ORPHA:247245
Leigh Syndrome
Lacticaciduria, Olivopontocerebellar atrophy, Athetosis, Anemia, Ventricular septal defect, Focal... ORPHA:506
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Smal... ORPHA:555874
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Atrophy/Degeneration affecting the brainstem, Perineal hypospadias, Micro... ORPHA:66634
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Abnormal... ORPHA:139578
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Decreased body weight, Atrophy ... ORPHA:445062
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart valve morphology ORPHA:171719
Arnold-Chiari Malformation Type I
Syringomyelia, Abnormality of the eleventh cranial nerve, Abnormality of the musculature of the l... ORPHA:268882
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Right ventricula... OMIM:616028
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil mor... ORPHA:906
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Absent tonsils, Failure to thrive, Aplas... OMIM:602450
X-Linked Cerebral Adrenoleukodystrophy
Primary adrenal insufficiency, Dysmetria, Facial myokymia, Decreased circulating cortisol level, ... ORPHA:139396
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia, Cerebellar vermis hypoplasia OMIM:614615
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology, Congenital diaphragmatic hernia OMIM:614100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Recurrent upper respiratory tract infections... ORPHA:293987
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Abnormal brainstem morphology, Ataxia, Abnormality of neutrophils, Hydrocepha... ORPHA:2720
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent bronchi... OMIM:244400
Treacher-Collins Syndrome
Patent ductus arteriosus, Cryptorchidism, Hypoplasia of penis, Failure to thrive, Hypoplasia of t... ORPHA:861
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Ventricular septal defect, Cardiomegaly, Decreased response to growth hormone stim... OMIM:602782
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic... ORPHA:231160
Proteus-Like Syndrome
Bronchogenic cyst, Communicating hydrocephalus, Polycystic ovaries, Splenomegaly, Abnormality of ... ORPHA:2969
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Unsteady gait OMIM:617542
Hepatic granulomatosis, Rhabdomyolysis, Pneumonia, Pyelonephritis, Acute kidney injury, Cholecyst... ORPHA:533
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Decreased body weight, Congenital muscular dystrophy, Absent muscl... ORPHA:258
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Elbow flexion contracture, Muscle fiber atrophy, Abnormal venous morphology,... ORPHA:1900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pne... OMIM:102700
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Atrial septal defect, Micropenis, Molar tooth sign on MRI, Cryptorchidi... OMIM:615948
Ethylmalonic Encephalopathy
Failure to thrive, Abnormal brainstem MRI signal intensity, Ethylmalonic aciduria, Ataxia ORPHA:51188
Meckel Syndrome
Hydrocephalus, Accessory spleen, Ureteral duplication, Pancreatic cysts, Cryptorchidism, Anenceph... ORPHA:564
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Foam cells, CNS foam cells, Splenomegaly, Hepatomegaly, Ataxia, Gait ata... OMIM:257220
Tick-Borne Encephalitis
Abnormal myocardium morphology, Leukopenia, Leukocytosis, Abnormal cranial nerve morphology, Skel... ORPHA:297
Parkes Weber Syndrome
Urinary retention, Nephrotic syndrome, Arteriovenous fistula, Vascular tortuosity, Lower limb mus... ORPHA:90307
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Dysmetria, Abnormal brainstem morphology, Abnormal autonomic nervous system physi... ORPHA:93256
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Hypoglycosylation of al... ORPHA:370997
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atr... ORPHA:99027
Spinal Arteriovenous Metameric Syndrome
Lymphangioma, Urinary bladder sphincter dysfunction, Arteriovenous malformation, Abnormality of t... ORPHA:53721
Eec Syndrome
Hydronephrosis, Hypospadias, Anterior hypopituitarism, Hypoplasia of the thymus, Decreased respon... ORPHA:1896
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Hepatomegal... ORPHA:75249
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Nephrocalcinosis, Primary adrenal insuffic... OMIM:240300
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Abnormal br... ORPHA:220386
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Abnormal br... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Abnormal br... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Abnormal br... ORPHA:93924
Joubert Syndrome 5
Renal cortical cysts, Stage 5 chronic kidney disease, Thickened superior cerebellar peduncle, Mol... OMIM:610188
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Foam cells, CNS foam cells, Splenomegaly, Hepatomegaly, Ataxia, Prolonge... OMIM:607625
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227982
Loeys-Dietz Syndrome 4
Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Dural ectasia, Aortic dissecti... OMIM:614816
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles, Lower limb muscle weakness, Gait ataxia, Truncal ata... OMIM:137440
Isolated Complex I Deficiency
Proximal tubulopathy, Optic neuropathy, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Failur... ORPHA:2609
Lower limb muscle weakness, Decreased serum estradiol, Increased circulating prolactin concentrat... ORPHA:2495
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Bronchiectasis, Cachexia, Recurrent lower respiratory tra... ORPHA:60033
Ellis Van Creveld Syndrome
Emphysema, Hydroureter, Abnormality of the ureter, Abnormal heart valve morphology, Aplasia/Hypop... ORPHA:289
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227990
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Patent d... ORPHA:95430
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Emphysema, Chylothorax, Renal angiomyolipoma, Abnormal urinary color, Hematuria, Pulmonary lympha... ORPHA:538
Stormorken Syndrome
Howell-Jolly bodies, Anemia, Myopathy, Asplenia, Thrombocytopenia OMIM:185070
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Muscular subvalvular aortic stenosis, Diabetic ketoacidos... OMIM:302900
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Decreased serum insulin-like growth factor 1, Dec... OMIM:619476
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Gait disturbance ORPHA:88619
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture, Micropenis, Molar tooth sign on MRI, Dysgenesis of th... OMIM:619479
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Papilledema, Anemia, Aortic valve calcification, Thrombocytopenia, Abnormal pulmona... ORPHA:2072
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Cirrhosis, Cardiomegaly, Left ventricular hyper... ORPHA:57777
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Gait disturbance, Abnormal brainstem MRI signal intensity, Tip-toe gait ORPHA:83629
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Chylothorax, Type 2 muscle fiber predominance, Thymus hyperplasia, T... OMIM:619036
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Arteri... ORPHA:289390
Thymic Aplasia
T lymphocytopenia, Hypothyroidism, Pneumonia, Coombs-positive hemolytic anemia, Decreased proport... ORPHA:83471
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Kinked brainstem, Congenital muscular dystrophy, Cryptorchidism, Cerebellar... OMIM:236670
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Pleural effusion, Hepatomegaly, Abnormal vena cava morphology, Atrial s... ORPHA:1677
Sarcoidosis, Susceptibility To, 1
Emphysema, Pancytopenia, Abnormal salivary gland morphology, Elevated bronchoalveolar lavage flui... OMIM:181000
Common Variable Immunodeficiency
Emphysema, Abnormality of the liver, Pneumonia, Failure to thrive in infancy, Autoimmune thromboc... ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Pulmonary carcinoid tumor, Hypercholesterolemia, Aortic root aneurysm, Coronary artery... ORPHA:363618
Acute Disseminated Encephalomyelitis
Viral hepatitis, Abnormal cerebellum morphology, Ataxia, Abnormal brainstem MRI signal intensity,... ORPHA:83597
Emphysema, Anemia, Failure to thrive in infancy ORPHA:436
Sweeney-Cox Syndrome
Cerebellar hypoplasia, Asplenia, Bilateral cryptorchidism OMIM:617746
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic hernia ORPHA:563609
Leg muscle stiffness, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary adrenal ... ORPHA:139399
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Hypersensitivity pneumonitis, Honeycomb lung, Chronic bronchitis, Respiratory tract in... ORPHA:79127
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Chronic hepatit... OMIM:269200
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Venous insufficiency, Neoplasm of the thyroid gland, Arteriovenou... ORPHA:137608
Osteogenesis Imperfecta
Abnormal endocardium morphology, Hydrocephalus, Syringomyelia, Flexion contracture, Nephrolithias... ORPHA:666
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Patent ductus arteriosus, Molar tooth sign on MRI, Dandy-Walker malform... ORPHA:434179
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Cerebral berry aneurysm, Portal hypertension OMIM:210050
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Chordee, Cryptorchidism, Hydronephrosis, Cerebellar hypoplasia, Multicystic ... ORPHA:261537
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Diabetic ketoacidosis, Abnormality of the spinocerebellar t... OMIM:229310
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Diabetic ketoacidosis, Abnormality of the spinocerebellar t... OMIM:601992
Neurofibromatosis Type 2
Foot dorsiflexor weakness, Spinal cord tumor, Abnormal cerebellum morphology, Unsteady gait, Myel... ORPHA:637
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormality of the spinal cord ORPHA:494
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Chordee, Cryptorchidism, Hydronephrosis, Cerebellar hypoplasia, Multicystic ... ORPHA:261552
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation, Splenomegaly, Tethered cord OMIM:612918
Marfan Syndrome
Emphysema, Skeletal muscle atrophy, Slender build, Descending aortic dissection, Ascending tubula... ORPHA:558
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Emphysema, Nephrotic syndrome, D... ORPHA:324
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Horseshoe kidney, Patent foramen ovale, Cryptorchidism, Aspl... ORPHA:221120
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Ataxia, Gait disturbance, Gait ataxia, Abnormality of... ORPHA:88628
Paget Disease Of Bone 2, Early-Onset
Long-tract signs, Brain stem compression, Hydroxyprolinuria OMIM:602080
Emphysema, Abnormal heart valve morphology, Pneumonia, Lymphadenitis, Weight loss, Peritonitis, A... ORPHA:31204
Mowat-Wilson Syndrome
Enlarged cerebellum, Chordee, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Agene... ORPHA:2152
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Bladder diverticulum, Patent foramen ovale, Hydronephrosis, Pulmonary artery stenosis,... OMIM:613177
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Prominent superficial veins, Failure to thrive, At... OMIM:614008
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel ... ORPHA:568051
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Dysmetria, Neurofibrillary tangles, Gait ataxia, Dysdiadochokinesis, Optic at... OMIM:610217
Tetraamelia Syndrome 1
Adrenal gland agenesis, Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Peripheral pulm... OMIM:273395
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Abnormal tendon morphology, Hyperlipidemia, Premature arteriosclerosis, Hyperc... ORPHA:391665
Tetrasomy 9P
Hydrocephalus, Multiple renal cysts, Myositis, Horseshoe kidney, Patent foramen ovale, Absent gal... ORPHA:3310
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Vascular dilatation, Recurrent pneumonia, Urethral diverticulum, Pyelonephritis, Dilat... ORPHA:90349
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Graves disease, Abnormal capillary morphology, Venous insufficiency, ... ORPHA:542643
Monosomy 22
Hepatosplenomegaly, Micropenis, Contractures of the large joints, Aplasia of the thymus, Hypochro... ORPHA:96123
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Exocrine pancreatic insufficiency, Recurrent pneumonia, Biliary cirrhosis, Biliary tra... OMIM:219721
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Ascending aortic dissection, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hem... OMIM:130050
Hypothyroidism, Diabetes insipidus, Increased T cell count, Anemia, Abnormality of the adrenal gl... ORPHA:797
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Small for gestational age, Aortic root aneurysm, Tricuspid valve ... ORPHA:284979
Feingold Syndrome 1
Patent ductus arteriosus, Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Proteus Syndrome
Bronchogenic cyst, Renal cyst, Diabetes insipidus, Lymphangioma, Testicular neoplasm, Splenomegal... ORPHA:744
Limb Body Wall Complex
Abnormality of the liver, Myelomeningocele, Ectopia cordis, Diastasis recti, Atrial septal defect... ORPHA:2369
Familial Multiple Nevi Flammei
Venous insufficiency, Abnormal cranial nerve morphology, Arteriovenous malformation ORPHA:624
Alzheimer Disease, Familial, 1
Long-tract signs, Neurofibrillary tangles OMIM:104300
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Bladder diverticulum, Vascular tortuosity, Congenital diaphragmatic hernia, Recurrent ... OMIM:219100
Alzheimer Disease 2
Long-tract signs, Neurofibrillary tangles OMIM:104310
Solitary Bone Cyst
Abnormality of the spinal cord, Muscular edema ORPHA:83468
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis OMIM:604571
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Netherton Syndrome
Emphysema, Ectopic kidney, Hydronephrosis, Recurrent respiratory infections, Aminoaciduria ORPHA:634
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Enlarged Parietal Foramina
Occipital encephalocele, Venous malformation, Myelomeningocele ORPHA:60015
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Milroy Disease
Abnormal venous morphology, Hydrocele testis, Varicose veins ORPHA:79452
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency ORPHA:745
Clapo Syndrome
Venous malformation, Failure to thrive, Varicose veins, Lymphangioma ORPHA:168984
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral renal agenesis, Absent gallbladder, Horseshoe kidney, Failure to thrive in ... ORPHA:500150
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormal venous morphology, Abnormality of the lymphatic system, Ovarian serous ... ORPHA:276280
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency ORPHA:743
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Neurofibrillary tangles, Abnormal autonomic nervous system physiology OMIM:616840
Meier-Gorlin Syndrome 1
Emphysema, Flexion contracture, Small for gestational age, Micropenis, Cryptorchidism, Failure to... OMIM:224690
Mosaic Trisomy 20
Horseshoe kidney, Cryptorchidism, Abnormal mitral valve morphology, Dysplastic tricuspid valve, V... ORPHA:1724
Marfan Syndrome
Emphysema, Flexion contracture, Mitral annular calcification, Aortic root aneurysm, Decreased mus... OMIM:154700
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive, Cryptorchidism, Breast hypoplasia OMIM:613804
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon OMIM:601374
Alzheimer Disease 3
Neurofibrillary tangles, Gait disturbance OMIM:607822
Hepatocellular Carcinoma
Polycythemia, Abnormality of the liver, Portal hypertension, Thrombocytosis, Hepatomegaly, Jaundi... ORPHA:88673
Autosomal Dominant Cutis Laxa
Emphysema, Unilateral renal agenesis, Pyelonephritis, Bronchiolitis, Bladder diverticulum, Dilata... ORPHA:90348
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Pancytopenia, Hepatic steatosis, Portal hypertension, Cholestasis, Slender build, Bile... OMIM:613658
Microphthalmia With Limb Anomalies
Horseshoe kidney, Cryptorchidism, Venous insufficiency, Failure to thrive, Hydrocephalus, Death i... ORPHA:1106
Meier-Gorlin Syndrome 6
Emphysema, Delayed puberty, Small for gestational age, Cryptorchidism, Recurrent respiratory infe... OMIM:616835
Menkes Disease
Bladder diverticulum, Venous insufficiency, Prolonged neonatal jaundice, Aplasia/Hypoplasia of th... ORPHA:565
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 9, Susceptibility To
Neurofibrillary tangles OMIM:608907
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Familial Cerebral Cavernous Malformation
Focal T2 hypointense brainstem lesion, Venous malformation, Spinal cord lesion, Focal T2 hyperint... ORPHA:221061
Visceral Steatosis, Congenital
Neonatal death, Hepatic steatosis, Myocardial steatosis, Jaundice OMIM:228100
Angioosteohypertrophic Syndrome
Venous insufficiency, Peripheral arteriovenous fistula, Hematuria, Tricuspid valve prolapse ORPHA:2346
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis, ... OMIM:245150
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Akinesia, Retrocollis, Gait imbalance, Falls OMIM:609454
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Akinesia, Retrocollis, Gait imbalance, Falls OMIM:601104
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Generalized arterial tortuosity, Pulmonary artery aneurysm, Pulmonary artery dilatatio... OMIM:614437
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles OMIM:607485
Occipital Horn Syndrome
Bladder diverticulum, Cholestasis, Jaundice, Venous insufficiency, Hepatitis, Vascular dilatation ORPHA:198
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia OMIM:117300
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Hypomimic face ORPHA:199351
Norrie Disease
Cryptorchidism, Venous insufficiency, Failure to thrive, Diabetes mellitus, Cachexia, Delayed pub... ORPHA:649
Hypermobile Ehlers-Danlos Syndrome
Tendon rupture, Decreased nerve conduction velocity, Arterial dissection, Venous insufficiency, A... ORPHA:285
Alzheimer Disease 4
Neurofibrillary tangles OMIM:606889
Glomuvenous Malformation
Venous malformation, Gastrointestinal arteriovenous malformation, Arteriovenous malformation ORPHA:83454
Corneal Dystrophy, Fleck


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

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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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