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Gene: Pigu MGI:3039607

Gene Summary

Name:

phosphatidylinositol glycan anchor biosynthesis, class U

Synonyms:

5430426F17Rik, Cdc91l1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Pigu^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00
hydrocephaly		Pigu^{tm1b(EUCOMM)Hmgu}	HET		Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Pigu 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.

Human diseases associated with Pigu (1 diseases)
Human diseases predicted to be associated with Pigu (460 diseases)

The table below shows human diseases associated to Pigu by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis		Hydrocephalus	OMIM:618590

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

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Fried Syndrome	Hydrocephalus	ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Temple Syndrome	Hydrocephalus	ORPHA:254516
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Crouzon Syndrome	Hydrocephalus	ORPHA:207
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Temple Syndrome	Hydrocephalus	OMIM:616222
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Trisomy 1Q	Hydrocephalus, Ventriculomegaly	ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Trisomy 17P	Hydrocephalus	ORPHA:261290
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:93932
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Achondroplasia	Hydrocephalus	ORPHA:15
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:264480
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Desmosterolosis	Hydrocephalus, Ventriculomegaly	ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Whipple Disease	Hydrocephalus	ORPHA:3452
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Mirage Syndrome	Hydrocephalus	OMIM:617053
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Hurler Syndrome	Hydrocephalus	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Dextrocardia	Hydrocephalus	ORPHA:1666
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Achondroplasia	Hydrocephalus	OMIM:100800
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Mohr Syndrome	Hydrocephalus	OMIM:252100
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker malformation	ORPHA:2162
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Medulloblastoma	Hydrocephalus	ORPHA:616
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Apert Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:101200
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
H Syndrome	Hydrocephalus	ORPHA:168569
1Q21.1 Microdeletion Syndrome	Hydrocephalus	ORPHA:250989
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus	OMIM:619512
Opitz-Kaveggia Syndrome	Hydrocephalus	OMIM:305450
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Stromme Syndrome	Hydrocephalus	OMIM:243605
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Marshall-Smith Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602535
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Raine Syndrome	Hydrocephalus	OMIM:259775
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly	OMIM:620305
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta	OMIM:300373
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Colpocephaly	OMIM:309801
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363958
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus	ORPHA:95699
Fanconi Anemia, Complementation Group D2	Hydrocephalus	OMIM:227646
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly	OMIM:619475
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Cryptococcosis	Hydrocephalus	ORPHA:1546
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele	ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:84
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Smith-Lemli-Opitz Syndrome	Colpocephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:270400
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus	OMIM:306955
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Marden-Walker Syndrome	Hydrocephalus	ORPHA:2461
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Meningioma	Hydrocephalus	ORPHA:2495
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2072
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Colpocephaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:210710
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus	OMIM:219000
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Fontaine Progeroid Syndrome	Hydrocephalus	OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:264090
Wolf-Hirschhorn Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:194190
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Yunis-Varon Syndrome	Hydrocephalus	ORPHA:3472
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly	OMIM:619841
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Lateral ventricle dilatation	OMIM:607872
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus	ORPHA:3455
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Peters-Plus Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:619534
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Hydrolethalus Syndrome 1	Dandy-Walker malformation, Anencephaly, Severe hydrocephalus	OMIM:236680
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus	OMIM:312870
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele	OMIM:268300
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	OMIM:164210

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 Pigu

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 Pigu.

No publications found that use IMPC mice or data for Pigu.

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MGI Allele	Allele Type	Produced
Pigu^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pigu^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pigu MGI:3039607

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

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X-ray

Human diseases caused by Pigu mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data