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
5230400C17Rik,  Pip5k3,  PipkIII

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
Muscular dystrophy, Flexion contracture, Pneumonia, Right ventricular hypertrophy, Calf muscle ps... OMIM:253700
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Wide nasal bridge, Cerebellar atrophy, Patent foramen ovale, Hypoplastic sp... ORPHA:89844
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney,... OMIM:601186
Ravine Syndrome
Abnormality of the larynx, Ataxia, Decreased body weight, Abnormal auditory evoked potentials, Ab... ORPHA:99852
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Patent duct... OMIM:612541
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Joubert Syndrome 32
Ataxia, Abnormal cerebellum morphology, Large for gestational age, Molar tooth sign on MRI, Hyper... OMIM:617757
Peripartum Cardiomyopathy
Abnormal atrioventricular valve morphology, Right ventricular dilatation, Left atrial enlargement... ORPHA:563
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... ORPHA:1532
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Difficulty walking, Limb-girdle muscular dystrophy, Myopathy, Right ventricular d... ORPHA:369847
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Failure to thrive, Right ventricular dilatation ORPHA:217607
Inability to walk, Camptodactyly of finger, Transient nephrotic syndrome, Abnormal heart morpholo... ORPHA:356961
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Aminoaciduria, Intrahepatic biliary dys... OMIM:214110
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Abnormal midbrain morphology, Coarctation of aorta, Precocious puberty, C... ORPHA:280195
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Joubert Syndrome 36
Molar tooth sign on MRI, Anteverted nares OMIM:618763
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Dystonia, Cerebellar vermis hypoplasia, Unilateral renal agenesis, V... OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Enlarged kidney, Cystic renal dysplasia, ... OMIM:615415
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Renal cyst, Bile duct ... OMIM:611134
Joubert Syndrome 18
Camptodactyly, Molar tooth sign on MRI, Horseshoe kidney, Ventricular septal defect OMIM:614815
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Right ventricular dilatation ORPHA:422
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Nephronophthisis, Cerebellar vermis hypoplasia, Ataxia, E... OMIM:609583
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Wide nasal bridge OMIM:300804
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Meckel Syndrome 13
Flexion contracture, Cerebellar hypoplasia, Ataxia, Polycystic kidney dysplasia, Molar tooth sign... OMIM:617562
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Hypoplasia of the brainstem, Ventricular septal defect, Abnormal midbrain morphol... ORPHA:444072
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, Gait disturbance, L... ORPHA:206448
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Hypopla... OMIM:300400
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Abnormal nerve conduction velocity, Gait disturbance, Abnormality o... ORPHA:98755
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle, Chronic s... ORPHA:244
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Ataxia, Multicystic kidney dysplasia, Renal fibrosis, Elongated sup... OMIM:618161
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Pulmonary hypoplasia, Cardiomeg... OMIM:617022
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Right ventricular dilatation ORPHA:99105
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Macroglossia, Cerebellar cyst, Congenital muscular dystrophy, Skelet... ORPHA:370959
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Failure to thriv... ORPHA:99106
Syndromic Diarrhea
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Small for gestational age, Cirrho... ORPHA:84064
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Patent ductus arterios... OMIM:617053
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eo... OMIM:603554
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology, Underdeveloped nasal alae, Wide nasal bridge ORPHA:411493
Coach Syndrome 3
Nephronophthisis, Renal insufficiency, Ataxia, Anemia, Stage 5 chronic kidney disease, Portal fib... OMIM:619113
22Q11.2 Deletion Syndrome
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Choanal atresia, Vesicoureteral reflux, A... ORPHA:567
Joubert Syndrome 1
Hypoplasia of the brainstem, Macroglossia, Brainstem dysplasia, Cerebellar vermis hypoplasia, Ata... OMIM:213300
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Nephronophthisis, Abnormal r... OMIM:608091
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Respiratory tract infection, Increased red blood cell co... ORPHA:68
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nar... ORPHA:40366
Orofaciodigital Syndrome Xv
Hydronephrosis, Molar tooth sign on MRI, Anteverted nares, Wide nasal bridge OMIM:617127
Joubert Syndrome 3
Nephronophthisis, Cerebellar vermis hypoplasia, Ataxia, Wide nasal bridge, Elongated superior cer... OMIM:608629
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Dystonia, Ataxia ORPHA:263410
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Hepatomegaly, Generalized amyotrophy, Abnormal brainstem mo... ORPHA:79279
Pearson Syndrome
Proteinuria, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestation... ORPHA:699
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Accessory spleen, Rhombencephalosynapsis, Ventricular septal defect,... OMIM:619306
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Single ventricle, Situs inversus totalis, Aorto... OMIM:208530
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia OMIM:616781
Joubert Syndrome With Ocular Defect
Anteverted nares, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Cerebellar ve... ORPHA:220493
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Pneumonia, Unroofed coronary sinus, Right atrial enlargement, ... ORPHA:99104
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia, Optic disc pallor, Wide nasal bridge OMIM:617121
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hepatic fibrosis, Congenital hepatic fibrosis, Portal fibrosis, Mol... OMIM:619111
Joubert Syndrome 7
Hypoplasia of the brainstem, Nephronophthisis, Brainstem dysplasia, Ataxia, Renal cyst, Molar too... OMIM:611560
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Flexion contracture, Cerebellar atrophy, Fail... OMIM:618404
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus, Ventricular septal de... OMIM:243150
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Failure to thrive ORPHA:255182
Joubert Syndrome 15
Nephronophthisis, Molar tooth sign on MRI, Micropenis, Ataxia OMIM:614464
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Abnormal midbrain morphology, Hyperintensity... ORPHA:79139
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Failure to thrive, Broad nasal tip OMIM:277170
Joubert Syndrome With Renal Defect
Anteverted nares, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Cerebellar ve... ORPHA:220497
Joubert Syndrome 16
Nephronophthisis, Molar tooth sign on MRI, Renal cyst, Dandy-Walker malformation OMIM:614465
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, B... OMIM:208540
Mosaic Trisomy 9
Cryptorchidism, Spina bifida, Camptodactyly of finger, Atrial septal defect, Bulbous nose, Multip... ORPHA:99776
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Meckel Syndrome, Type 10
Anencephaly, Renal cyst, Hypospadias, Molar tooth sign on MRI, Micropenis OMIM:614175
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Nephronophthisis, Cerebellar vermis hypoplasia, Ataxia, H... OMIM:610688
Gracile Bone Dysplasia
Asplenia, Failure to thrive, Hypoplastic spleen, Micropenis, Hydrocephalus OMIM:602361
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Ataxia, Dilated fourth ventricle, Elongated superior cereb... ORPHA:370022
Joubert Syndrome With Oculorenal Defect
Anteverted nares, Abnormality of the hypothalamus-pituitary axis, Cerebellar vermis hypoplasia, A... ORPHA:2318
Joubert Syndrome 22
Renal hypoplasia, Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Lennox-Gastaut Syndrome
Falls, Abnormal brainstem morphology, Hyperactivity ORPHA:2382
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Arrhinenceph... OMIM:156810
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar v... ORPHA:163961
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Alveolar capillary dy... OMIM:265380
Hydrocephalus, Brain stem compression, Depressed nasal bridge OMIM:100800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Meningocele, Hypospadi... ORPHA:397715
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cerebellar vermis hypoplasia, Anencephaly, Pulmonary hypoplasia, Congenital... OMIM:616546
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Pneumonia, Right ventricular dilatation ORPHA:99103
Arima Syndrome
Hypoplasia of the brainstem, Nephronophthisis, Tubulointerstitial fibrosis, Brainstem dysplasia, ... OMIM:243910
Cach Syndrome
Arthrogryposis multiplex congenita, Truncal ataxia, Renal hypoplasia, Limb ataxia, Flexion contra... ORPHA:135
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Steppage gait, Flexion contracture, Quadriceps muscle weakness, Triceps wea... ORPHA:99947
20Q11.2 Microdeletion Syndrome
Camptodactyly, Brainstem dysplasia ORPHA:444051
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Macroorchidism, Cerebellar dysplasia, A... ORPHA:8
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Joubert Syndrome 20
Molar tooth sign on MRI, Renal cyst OMIM:614970
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Myeloproliferative disorder, Right ventricular dilatation, Obesity ORPHA:70591
Joubert Syndrome 9
Hepatic fibrosis, Molar tooth sign on MRI, Stage 5 chronic kidney disease OMIM:612285
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hematuria, Abnormal heart valve morphology, Pleural effusion, Pericardia... ORPHA:36412
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal brainstem morphology, Attention deficit hyperactivity disorder, Hypo... ORPHA:300573
Proteus Syndrome
Spinal cord compression, Venous malformation, Splenomegaly, Lymphangioma, Depressed nasal bridge OMIM:176920
Orofaciodigital Syndrome Type 6
Abnormal heart morphology, Gait disturbance, Cerebellar vermis hypoplasia, Bilateral cryptorchidi... ORPHA:2754
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Abnormal respiratory system morphology, Emphys... ORPHA:70589
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short nose, Micropenis, Pericard... OMIM:617822
Leigh Syndrome With Cardiomyopathy
Dystonia, Ataxia, Renal tubular acidosis, Pulmonic stenosis, Abnormal brainstem morphology, Failu... ORPHA:70474
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Microcytic anemia, Abnormal tricuspid valve morphology, Patent d... ORPHA:90308
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Flexion contracture of finger, Ventricular septal defect, Micropenis, Gait distur... ORPHA:464311
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
T lymphocytopenia, Recurrent bronchitis, Dystonia, Bronchiectasis, Decreased proportion of CD4-po... OMIM:208900
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Vesicoureteral ref... OMIM:618454
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Kaposi Sarcoma
Abnormal lung morphology, Generalized lymphadenopathy, Weight loss, Venous insufficiency, Abnorma... ORPHA:33276
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Hepatomegaly, Abnormal pulmonary... OMIM:612387
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Ventricular septal defect, Autoimmune hemolytic anemia, Hashimoto thyroiditis... ORPHA:436252
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Ventricular septal defect, Camptodactyly, Abdominal situs inversus, Cerebellar ve... OMIM:619123
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Lymphopenia, Emphysema, Recurrent bronchopulmonary infecti... OMIM:242700
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Brain stem compression, Difficulty walking, Pneumonia, Aqueductal stenosis, A... ORPHA:1136
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Arnold-Chiari malformation, Adrenal hypoplasia, Coarctation of ... OMIM:249000
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Asplenia, Chronic ... OMIM:244400
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Increased circulating cortisol level, Pituitary prolactin cell adenoma,... ORPHA:97289
Leigh Syndrome
Dystonia, Neutropenia, Anemia, Skeletal muscle atrophy, Abnormal dentate nucleus morphology, Abno... ORPHA:506
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining t... ORPHA:185
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Joubert Syndrome 8
Ataxia, Hepatomegaly, Prolonged neonatal jaundice, Molar tooth sign on MRI, Optic disc pallor, Ob... OMIM:612291
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Patent ductus arteriosus, Cerebellar hypoplasia, Pulmonary hypo... OMIM:616300
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Dystonia, Microvesicular hepatic steatosis, Hypothyroidism, Diaphr... ORPHA:66634
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Abnormal brainstem MRI signal intensity, Difficulty walking, Lower limb muscle... ORPHA:254930
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Histiocytosis, Left superior vena cava draining to coron... OMIM:602782
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Blepharospasm, Wide nasal bridge, Hypo... ORPHA:861
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Recurrent upper respiratory tract infections, Abnormal midbrain morpholo... ORPHA:293987
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Right ventricular hypertrophy, Left ventricular hypertro... ORPHA:444013
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... ORPHA:139578
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Gait ataxia, Atrophy of the spinal cord, Decreased body weight, Cerebellar atrophy, Atrophy/Degen... ORPHA:445062
Arnold-Chiari Malformation Type I
Gait ataxia, Brain stem compression, Arnold-Chiari type I malformation, Cranial nerve compression... ORPHA:268882
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Primary adrenal insufficiency, Facial m... ORPHA:139396
Superficial Siderosis
Dysdiadochokinesis, Abnormal vertebral artery morphology, Abnormal cerebellar vermis morphology, ... ORPHA:247245
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormality of masseter muscle, Decreased body weight, Abnorm... ORPHA:314621
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hypochromic anemia, Abnormality of neutrophils, Ataxia, Abn... ORPHA:2720
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Emphysema, Aortic aneurysm ORPHA:90348
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:614615
Semilobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Diabetes insipidus, Abnormality of the endocrine... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Diabetes insipidus, Abnormality of the endocrine... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Diabetes insipidus, Abnormality of the endocrine... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Diabetes insipidus, Abnormality of the endocrine... ORPHA:93924
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Proteus-Like Syndrome
Communicating hydrocephalus, Polycystic ovaries, Bronchogenic cyst, Abnormality of the parathyroi... ORPHA:2969
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Abnormal brainste... ORPHA:231160
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Abnormal brainstem MRI signal intensity, Macroglossia, Congenital muscular dys... ORPHA:258
Wiskott-Aldrich Syndrome
Vasculitis, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Recu... ORPHA:906
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Spleno... OMIM:616028
Orofaciodigital Syndrome Xvi
Inability to walk, Molar tooth sign on MRI, Ataxia, Depressed nasal bridge OMIM:617563
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Hypoplasia of the brainstem, Abnormal heart morphology, Cerebellar cyst, Camptodactyly, Cerebella... OMIM:618343
Neurogenic bladder, Cryptorchidism, Camptodactyly of finger, Truncal ataxia, Wide nasal bridge, H... ORPHA:263487
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Recurrent pneumonia, Wrist drop, Decreased muscle mass, Mitral valv... ORPHA:1900
Eec Syndrome
Urethral atresia, Choanal atresia, Hypoplasia of the thymus, Vesicoureteral reflux, Hydronephrosi... ORPHA:1896
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Diffuse cerebellar atrophy, Pollakisuria, Hyp... ORPHA:93256
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Gait disturbance, Blepharospasm, Ataxia, Writer's cr... ORPHA:98759
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Weight loss, Hemoptysis, Abnormal eosinophil morphology, Abnormal bron... ORPHA:1164
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Gait disturbance, Toe walking, Anteverted nares, Depress... ORPHA:83629
Orofaciodigital Syndrome Xiv
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Patent ductus... OMIM:615948
Multiple renal cysts, Hematuria, Abnormal urinary color, Pulmonary infiltrates, Emphysema, Renal ... ORPHA:538
Tick-Borne Encephalitis
Abnormal brainstem MRI signal intensity, Abnormal cranial nerve morphology, Myelitis, Leukocytosi... ORPHA:297
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Ataxia, Ethylmalonic aciduria, Failure to thrive ORPHA:51188
Stormorken Syndrome
Thrombocytopenia, Asplenia, Anemia, Myopathy, Howell-Jolly bodies, Prominent nose OMIM:185070
Meckel Syndrome
Urethral atresia, Cryptorchidism, Accessory spleen, Situs inversus totalis, Pancreatic cysts, Pan... ORPHA:564
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Conus terminalis arteriovenous malfor... ORPHA:90307
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Cerebellar vermis hypoplasia, Hypoglycosylation of alpha-dystroglycan, Abnormal ... ORPHA:370997
Sweeney-Cox Syndrome
Underdeveloped nasal alae, Choanal atresia, Bilateral cryptorchidism, Cerebellar hypoplasia, Wide... OMIM:617746
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Isolated Complex I Deficiency
Lethargy, Proximal tubulopathy, Abnormal mitochondria in muscle tissue, Ataxia, Hepatomegaly, Fai... ORPHA:2609
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Emphysema, Bicuspid aortic valve, ... OMIM:614816
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Autonomic bladder dysfunct... ORPHA:99027
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Chronic active hepatitis, Pri... OMIM:240300
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Emphysema, Acute infectious pneumonia, Cachexia, Hem... ORPHA:60033
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Spinal arteriovenous malformation, Arteriovenous malformat... ORPHA:53721
Peritonitis, Abnormal brainstem MRI signal intensity, Arteritis, Pericarditis, Endocarditis, Acut... ORPHA:533
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Hypoplasia of the pons, Underdeveloped nasal alae, Ventricular septal defect, Pat... ORPHA:163956
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Nephronophthisis, Impaired renal concentrating ability, R... OMIM:610188
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Bilia... ORPHA:227990
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Right atrial enlargement, Left atrial enlargement, Pulmonary edema, Interstitial ca... ORPHA:75249
Brain stem compression, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Lower li... ORPHA:2495
Ellis Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal... ORPHA:289
Lymphatic Malformation 7
Atrial septal defect, Pericardial effusion, Pulmonary edema, Anemia, Varicose veins OMIM:617300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Delayed puberty, Anemia, Hydrocephalus, Pulmonary fibrosis, Thrombocyt... ORPHA:2072
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Pericardial effus... OMIM:181000
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Intrinsic hand muscle atrophy, Abnormality of the spinocerebellar tracts, Abnor... OMIM:302900
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia,... ORPHA:1572
Orofaciodigital Syndrome Type 14
Bulbous nose, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Apla... ORPHA:434179
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Chronic hepatitis, Abnormality ... ORPHA:289390
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Gait disturbance, Abnormal brainstem morphology ORPHA:88619
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Death in infancy, Congenital contracture, Type 2 muscle fiber atroph... OMIM:619036
H Syndrome
Recurrent pharyngitis, Bronchiectasis, Microcytic anemia, Enlarged kidney, Camptodactyly, Hypogon... ORPHA:168569
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Ventricular hypertrophy, Mitral valve calcification, Emphysema, Aortic athe... ORPHA:363618
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome ORPHA:60
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Myelitis, Viral hepatitis, Ataxia, Abnormal cerebellum m... ORPHA:83597
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia, Congenital diaphragmatic hernia ORPHA:563609
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Vascular dilatation, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Bladder divert... OMIM:613177
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Emphysema, Anemia, Failure to thrive in infancy ORPHA:436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Hypoplasia of the brainstem, Cerebellar malformation, Congenital muscular dystrop... OMIM:236670
Marfan Syndrome
Slender build, Spontaneous pneumothorax, Aortic tortuosity, Mitral valve calcification, Emphysema... ORPHA:558
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Chordee, Camptodactyly, Vesicoureteral reflux, Pelvic kidney, W... ORPHA:261537
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the thyroid gland, Arteriovenous malformation, Lymphangioma, Venous... ORPHA:137608
Urinary bladder sphincter dysfunction, Adrenocortical abnormality, Leg muscle stiffness, Abnormal... ORPHA:139399
Osteogenesis Imperfecta
Hydrocephalus, Mitral valve prolapse, Abnormal endocardium morphology, Brain stem compression, Ga... ORPHA:666
Neurofibromatosis Type 2
Wrist drop, Bilateral vestibular Schwannoma, Brain stem compression, Spinal cord tumor, Myelopath... ORPHA:637
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials, Abnormality of the spinocerebellar tracts, Abno... OMIM:229310
Friedreich Ataxia 2
Abnormality of the spinocerebellar tracts, Abnormality of the dorsal column of the spinal cord, C... OMIM:601992
Tetraamelia Syndrome 1
Urethral atresia, Hydrocephalus, Choanal atresia, Asplenia, Pulmonary hypoplasia, Abnormality of ... OMIM:273395
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormality of the spinal cord ORPHA:494
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism, Tethered cord, Splenomegaly OMIM:612918
Peritonitis, Abnormal sputum, Endocarditis, Pericarditis, Pleuritis, Lymphadenitis, Abnormal hear... ORPHA:31204
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Chordee, Camptodactyly, Patent ductus arteriosus, Vesicouretera... ORPHA:261552
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Parathyroid adenoma, Pneumothorax, Medullary thyroid carcinoma ORPHA:122
Pseudoaminopterin Syndrome
Cryptorchidism, Posterolateral diaphragmatic hernia, Horseshoe kidney, Asplenia, Patent foramen o... ORPHA:221120
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension, Cirrhosis, Cerebral berry aneurysm OMIM:210050
Tetrasomy 9P
Cryptorchidism, Pericarditis, Bulbous nose, Jaundice, Dextrocardia, Hyperactivity, Patent foramen... ORPHA:3310
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Fabry Disease
Renal insufficiency, Hematuria, Proteinuria, Abnormal endocardium morphology, Emphysema, Abnormal... ORPHA:324
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Stage 5 ch... OMIM:618913
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Contractures of the large joints, Hepatospl... ORPHA:96123
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Chordee, Camptodactyly, Patent ductus arteriosus, Vesicouretera... ORPHA:2152
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Wide nasal bridge, Asplenia, Anteverted ... OMIM:164280
Limb Body Wall Complex
Spina bifida, Diastasis recti, Atrial septal defect, Abnormal heart morphology, Ventricular septa... ORPHA:2369
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphat... ORPHA:568051
Paget Disease Of Bone 2, Early-Onset
Long-tract signs, Hydroxyprolinuria, Brain stem compression OMIM:602080
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Repeated pneumothoraces, Combined cystic and ground-glass pattern on pulmonary HR... OMIM:130050
Lymphatic Malformation 6
Hydrocele testis, Atrial septal defect, Pleural effusion, Hypothyroidism, Chylothorax, Splenomega... OMIM:616843
Livedoid Vasculopathy
Graves disease, Leukocytosis, Abnormal capillary morphology, Polycythemia, Pancytopenia, Abnormal... ORPHA:542643
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Calcification of the aorta, Myocardial steatosis, Premature coronary artery... ORPHA:391665
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cor pulmonale, Emphysema, Biliary cirrho... OMIM:219721
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Flexion contracture of finger, Camptodactyly, Gait disturbance, Ataxia, Abnormal sen... ORPHA:88628
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Mitral valve prolapse, Ventricular septal defect, Enlarged kidney, Bifid ureter, Ca... ORPHA:500095
Neonatal Marfan Syndrome
Mitral valve prolapse, Emphysema, Flexion contracture, Wide nasal bridge, Abnormal cardiac ventri... ORPHA:284979
Proteus Syndrome
Decreased muscle mass, Diabetes insipidus, Ovarian neoplasm, Long penis, Macroorchidism, Neoplasm... ORPHA:744
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Emphysema, Peripheral pulmonary artery stenosis, Vascular dilatation, Multiple bl... ORPHA:90349
Bronchiectasis, Weight loss, Hypercalciuria, Anemia, Leukopenia, Renal insufficiency, Abnormal na... ORPHA:797
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Familial Multiple Nevi Flammei
Venous insufficiency, Abnormal cranial nerve morphology, Arteriovenous malformation ORPHA:624
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Bladder diverticulum, Congenital diaphragmatic hernia, Vascular tortuosity, Ascending ... OMIM:219100
Meier-Gorlin Syndrome 6
Cryptorchidism, Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Delayed puberty... OMIM:616835
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss, Di... ORPHA:71273
Solitary Bone Cyst
Muscular edema, Abnormality of the spinal cord ORPHA:83468
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Hepatic steatosis, Emphysema, Cholestasis, Pancytopenia, Abnormal pulmo... OMIM:613658
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency ORPHA:745
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Abnormal venous morphology, Abnorm... ORPHA:276280
Enlarged Parietal Foramina
Venous malformation, Myelomeningocele ORPHA:60015
Netherton Syndrome
Emphysema, Aminoaciduria, Hydronephrosis, Ectopic kidney, Recurrent respiratory infections ORPHA:634
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency ORPHA:743
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Atrial septal defect, Patent ductus arteriosus after birth at term, Sho... ORPHA:500150
Clapo Syndrome
Lymphangioma, Venous malformation, Varicose veins, Failure to thrive ORPHA:168984
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Microphthalmia With Limb Anomalies
Cryptorchidism, Horseshoe kidney, Arrhinencephaly, Death in infancy, Camptodactyly of 2nd-5th fin... ORPHA:1106
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Failure to thrive, Breast hypoplasia OMIM:613804
Mosaic Trisomy 20
Cryptorchidism, Horseshoe kidney, Abnormal mitral valve morphology, Dysplastic tricuspid valve, V... ORPHA:1724
Marfan Syndrome
Decreased muscle mass, Mitral valve prolapse, Camptodactyly, Flexion contracture, Emphysema, Bicu... OMIM:154700
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Visceral Steatosis, Congenital
Myocardial steatosis, Lethargy, Hepatic steatosis, Jaundice, Neonatal death OMIM:228100
Keutel Syndrome
Chronic sinusitis, Recurrent bronchitis, Ventricular septal defect, Emphysema, Peripheral pulmona... OMIM:245150
Menkes Disease
Abnormal carotid artery morphology, Vascular dilatation, Bladder diverticulum, Prolonged neonatal... ORPHA:565
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Venous insufficiency, Hemobilia, Polycyth... ORPHA:88673
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Familial Cerebral Cavernous Malformation
Venous malformation, Spinal cord lesion, Focal T2 hypointense brainstem lesion, Focal T2 hyperint... ORPHA:221061
Angioosteohypertrophic Syndrome
Venous insufficiency, Hematuria, Peripheral arteriovenous fistula, Tricuspid valve prolapse ORPHA:2346
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Bulbous nose, Generalized arterial tortuosity, Emphysema, Pulmonary artery a... OMIM:614437
Norrie Disease
Cryptorchidism, Aplasia/Hypoplasia of the cerebellum, Delayed puberty, Cachexia, Failure to thriv... ORPHA:649
Occipital Horn Syndrome
Vascular dilatation, Cholestasis, Bladder diverticulum, Jaundice, Hepatitis, Venous insufficiency ORPHA:198
Glomuvenous Malformation
Venous malformation, Gastrointestinal arteriovenous malformation, Abnormal trachea morphology, Ar... ORPHA:83454
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
Hypermobile Ehlers-Danlos Syndrome
Tendon rupture, Arterial dissection, Cystocele, Decreased nerve conduction velocity, Venous insuf... ORPHA:285
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
Pikfyvetm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pikfyvetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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