Gene Summary

Name:
phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
Synonyms:
PIP5KIgamma

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Pip5k1ctm1b(KOMP)Wtsi HET Early adult 4.11×10-07
persistence of hyaloid vascular system Pip5k1ctm1b(KOMP)Wtsi HET Early adult 3.36×10-05
edema Pip5k1ctm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Pip5k1ctm1b(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Aorta  Section images heterozygote 50% (2 of 4)
Brain  Section images heterozygote 100% (4 of 4)
Brainstem  Section images heterozygote 50% (2 of 4)
Cartilage tissue  Section images heterozygote 50% (2 of 4)
Cerebellum  Section images heterozygote 50% (2 of 4)
Cerebral cortex  Section images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (2 of 4)
Heart  Section images heterozygote 75% (3 of 4)
Hippocampus  Section images heterozygote 50% (2 of 4)
Hypothalamus  Section images heterozygote 50% (2 of 4)
Kidney  Section images heterozygote 100% (4 of 4)
Large intestine  Section images heterozygote 75% (3 of 4)
Liver  Section images heterozygote 50% (2 of 4)
Lung  Section images heterozygote 50% (2 of 4)
Lymph node  Section images heterozygote 100% (4 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Ovary  Section images heterozygote 25% (1 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Pancreas  Section images heterozygote 75% (3 of 4)
Peripheral nervous system  Section images heterozygote 100% (4 of 4)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (4 of 4)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 50% (2 of 4)
Small intestine  Section images heterozygote 75% (3 of 4)
Spinal cord  Section images heterozygote 100% (4 of 4)
Spleen  Section images heterozygote 75% (3 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Striatum  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (2 of 4)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 75% (3 of 4)
Thyroid gland  Section images heterozygote 50% (2 of 4)
Trachea  Section images heterozygote 50% (2 of 4)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (2 of 4)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 50% (2 of 4)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E18.5

Images

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

2 Images

Legacy Phenotype Associated Images

View all 177 images

Human diseases caused by Pip5k1c 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 Pip5k1c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369

The table below shows human diseases predicted to be associated to Pip5k1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipedema
Edema OMIM:614103
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... OMIM:615411
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Lissencephaly 1
Gray matter heterotopia, Dilation of Virchow-Robin spaces, Agyria, Lissencephaly, Subcortical ban... OMIM:607432
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... OMIM:617300
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Lymphatic Malformation 3
Lymphedema OMIM:613480
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Pleural effusion, Ascites, Splenomegaly ORPHA:2414
White Sponge Nevus 2
Edema OMIM:615785
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Ascites OMIM:608776
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... OMIM:618775
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... OMIM:115197
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Ventricu... ORPHA:363705
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary ... OMIM:235510
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria OMIM:300067
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Gray matter heterotopia, Abnormality of neuronal migration, Cerebral he... OMIM:300049
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi... ORPHA:101030
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Pericardial effusion, Hydrocephalus, Lissencephaly, Pleural effusion, Edema OMIM:617822
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Congenital Enterovirus Infection
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Neutropenia, Abnormal macrophage morphology,... ORPHA:292
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... OMIM:613011
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multiple muscular ve... OMIM:620070
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Polyhydramnios, Encephalocele, Abnormality of neuronal migration, Hydro... ORPHA:93274
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hypocomplementemic Urticarial Vasculitis
Angioedema, Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Pleur... ORPHA:36412
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Pl... ORPHA:90362
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Drug-Induced Lupus Erythematosus
Pericardial effusion, Thrombocytopenia, Pericarditis, Anemia ORPHA:231111
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Gray matter heterotopia, Vascular dilatation, Ventricular septal defect, Hydrocep... OMIM:219730
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Abnormality of neuronal migration, 4-layered lissencephaly, Atrial septal d... ORPHA:89844
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Abnormality of neuronal migration, Intrauterine growth retardation, Ventr... ORPHA:2772
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Hypertrophic cardiomyopat... OMIM:261740
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Gaucher Disease Type 1
Leukopenia, Anemia, Pedal edema, Pericardial effusion, Hypersplenism, Pancytopenia, Ascites, Thro... ORPHA:77259
Symmetrical Thalamic Calcifications
Polyhydramnios, Abnormality of neuronal migration ORPHA:1314
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2216
Thanatophoric Dysplasia
Patent ductus arteriosus, Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Atrial septal d... ORPHA:2655
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m... OMIM:207950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Pediatric Systemic Lupus Erythematosus
Leukopenia, Pericardial effusion, Microangiopathic hemolytic anemia, Lymphopenia, Pleural effusio... ORPHA:93552
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Pleural effusion, Peripheral edema ORPHA:79126
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Periventricular hetero... OMIM:618974
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Aicardi-Goutieres Syndrome 9
Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegaly,... OMIM:619487
Q Fever
Endocarditis, Splenomegaly, Anemia, Pericardial effusion, Hepatosplenomegaly, Pericarditis, Pleur... ORPHA:781
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling, Splenomegaly ORPHA:92
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm, Abnormal heart valve morphology, Periventricular heter... ORPHA:98892
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion, Abnormal pulmonary vein mor... ORPHA:199241
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Dysplastic Cortical Hyperostosis
Polyhydramnios, Abnormality of neuronal migration, Hydrops fetalis, Splenomegaly ORPHA:2204
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Kaposiform Lymphangiomatosis
Anemia, Pericardial effusion, Epidural hemorrhage, Abnormal spleen morphology, Hepatosplenomegaly... ORPHA:464329
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Abnormality of neuronal migration, Syringomyelia ORPHA:2481
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Progressive Supranuclear Palsy
Falls, Impulsivity, Abnormal synaptic transmission, Dysphagia, Unsteady gait ORPHA:683
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Varic... ORPHA:536532
Poems Syndrome
Pericardial effusion, Polycythemia, Pleural effusion, Edema, Thrombocytosis, Ascites ORPHA:2905
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnor... ORPHA:7
Gaucher Disease Type 3
Splenomegaly, Anemia, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Pan... ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Stroke-like episode, Thromb... OMIM:212065
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malformation, Pulmonary lymphang... ORPHA:2136
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Gray matter heterotopia, Cerebral hemorrhage, Secundum atrial septal de... OMIM:617397
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Pericardial effusion, Pancytopenia, Hepatosplenomegaly, Pleural effusion, Ed... ORPHA:167
Desmosterolosis
Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyr... ORPHA:35107
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Pagod Syndrome
Meningocele, Abnormal aortic morphology, Encephalocele, Abnormality of neuronal migration, Spina ... ORPHA:991
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Occipital encephal... ORPHA:370959
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Ventricular septal defect, Periventricular nodular heterotopia, Polymicr... OMIM:617201
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... OMIM:265300
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites OMIM:618183
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Situs inversus totalis, Polymicr... ORPHA:475
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern, Intrauterine growth retardation OMIM:616171
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Aicardi-Goutieres Syndrome 7
Splenomegaly, Anemia, Hemolytic anemia, Pericardial effusion, Pancytopenia, Oligohydramnios, Hype... OMIM:615846
Brain Small Vessel Disease 2
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Aymé-Gripp Syndrome
Pericardial effusion, Hydrocephalus, Pericarditis, Patent ductus arteriosus ORPHA:1272
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Abnormal heart morphology, Syringomyelia ORPHA:531151
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Frontal polymicrogyria OMIM:300607
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Atrial septal d... ORPHA:1860
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis ORPHA:538
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... OMIM:120200
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... OMIM:616212
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Gray matter heterotopia, Aqueductal stenosis... OMIM:619895
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Atrial septal defect, ... OMIM:139210
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Gray matter heterotopia, Ascending tubular aorta aneurysm, Branchi... ORPHA:453499
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... OMIM:614643
Fragile X Syndrome
Mitral valve prolapse, Periventricular heterotopia OMIM:300624
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:899
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Ventricular septal defect, Atrial septal de... ORPHA:261236
Neu-Laxova Syndrome
Polyhydramnios, Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macr... ORPHA:2671
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Gray matter heterotopia, Ventricular septal defect, Coronary artery fis... OMIM:620024
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Periventricular hetero... OMIM:618870
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Pachygyria, Cardiomegaly, Abnor... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria ORPHA:157
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Hydrops fetalis, Arterial calcification, Abnormal retina... ORPHA:51608
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Holoprosencephaly
Abnormal aortic morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular sept... ORPHA:2162
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... ORPHA:2369
Glutathionuria
Gray matter heterotopia OMIM:231950
Thanatophoric Dysplasia, Type I
Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Neonatal death OMIM:187600
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:2318
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Hydrolethalus Syndrome 1
Polyhydramnios, Gray matter heterotopia, Ventricular septal defect, Abnormal cortical gyration, A... OMIM:236680
Crimean-Congo Hemorrhagic Fever
Leukopenia, Pericardial effusion, Neutrophilia, Pancytopenia, Subdural hemorrhage, Leukocytosis, ... ORPHA:99827
Gitelman Syndrome
Pericardial effusion, Iron deficiency anemia, Varicose veins ORPHA:358
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation, Aqueductal stenosis, Pachygyria ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Abnormality of neuronal migration, Dilated cardiomyopathy, Ol... OMIM:608836
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia, Coarctation of aorta OMIM:618929
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Gray matter heterotopia, Agyria, Lissencephaly, Abnormal heart morphology, Pachyg... OMIM:247200
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Splenomegaly, Pancytopenia OMIM:181000
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Radio-Tartaglia Syndrome
Gray matter heterotopia, Ventricular septal defect OMIM:619312
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Polyhydramnios, Hydrocephalus, Intrauterine growth retardation OMIM:619833
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Gray matter heterotopia, Ventricular septal defec... OMIM:610443
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Vici Syndrome
Gray matter heterotopia, Cardiomyopathy ORPHA:1493
Coffin-Lowry Syndrome
Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormality of neuronal mi... ORPHA:192
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Bohring-Opitz Syndrome
Polyhydramnios, Gray matter heterotopia, Ventricular septal defect, Atrial septal defect, Intraut... OMIM:605039
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Orofaciodigital Syndrome Vi
Arrhinencephaly, Periventricular nodular heterotopia, Coarctation of aorta, Hypoplastic left hear... OMIM:277170
Orofaciodigital Syndrome I
Gray matter heterotopia, Vascular dilatation, Myelomeningocele, Abnormal cortical gyration, Hydro... OMIM:311200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Overriding aorta, Tetralogy of Fallot, Abnormality of neuronal migration ORPHA:3186
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse, Periventricular nodular h... ORPHA:555877
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Abnormal heart morphology, Cardiomyopathy ORPHA:26791
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Hydromyelia, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Ty... OMIM:615287
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Polyhydramnios, Abnormality of neuronal migration, Ventricular septal d... ORPHA:464311
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Gray matter heterotopia, Abnormal heart morphology, Lymphedema ORPHA:314679
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean co... ORPHA:261250
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2518
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Splenomegaly, Abnormality of neuronal migration ORPHA:1454
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... ORPHA:91495
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Asparagine Synthetase Deficiency
Simplified gyral pattern, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Lissencephaly, Type II lissencephaly, Pachygyria, Polymicro... OMIM:253800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Gray matter heterotopia, Ventricular septal defect, Polymicrogyria OMIM:214100
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus, Abnormal heart morphology, Umbilical hernia OMIM:305450
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Patent foramen ovale, Gray matter heterotopia, Ventricular septal defect, Abnormal cortical gyrat... OMIM:210710
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Intrauterine growth retardation, Pachygyria ORPHA:255138
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Abnormal heart morphology ORPHA:2754
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Gray matter heterotopia, Periventricular heterotopia, Bicuspid aortic v... OMIM:612289
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Aor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Aor... ORPHA:352665
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Ventricular septal defect, Periventricular heterotopia, Simplified gyra... OMIM:615948
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal cardiac septum morphology, A... ORPHA:3310
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Dilation of Virchow-... OMIM:603671
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Vici Syndrome
Leukopenia, Gray matter heterotopia, T lymphocytopenia, Left ventricular hypertrophy, Dilated car... OMIM:242840
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Neonatal death, Polymicrogyria OMIM:614887
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
X-Linked Cerebral Adrenoleukodystrophy
Abnormal spinal cord morphology, Myelopathy ORPHA:139396
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dys... ORPHA:1724
Pierson Syndrome
Retinal hemorrhage, Posterior lenticonus, Remnants of the hyaloid vascular system, Hypoproteinemi... OMIM:609049
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Aicardi Syndrome
Spina bifida, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia, Abnormal cortical gyration ORPHA:521426
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa... ORPHA:468631
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Superficial Siderosis
Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal spinal cord morphology... ORPHA:247245
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Tay-Sachs Disease
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia ORPHA:845
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Sandhoff Disease
Exaggerated startle response OMIM:268800
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Cerebral edema, Myelitis ORPHA:83597
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Anemia OMIM:243910
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Splenomegaly, Ventricular septal defect, Periventricular heterotopia, H... OMIM:270400
Pmm2-Cdg
Lymphedema, Pericardial effusion, Impaired neutrophil chemotaxis, Intracranial hemorrhage, Perica... ORPHA:79318
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Intrauterine growth reta... ORPHA:98889
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Abnormality of neuronal migration, Polymicr... ORPHA:75857
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Cerebral edema, Myocardial necrosis, Increased red blood cell count ORPHA:68
Adrenomyeloneuropathy
Abnormal spinal cord morphology, Dorsal column degeneration, Atrophy of the spinal cord ORPHA:139399
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of neuronal migration, Autoimmune hemolytic anemia, Thrombocytopeni... ORPHA:647
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Holoprosencephaly, Polymicrogyria OMIM:618820
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Periventricular heterotopia ORPHA:434179
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Abnormal spinal cord morphology, Arteritis, Lymphopenia, Xerostomi... ORPHA:289390
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Leukemia OMIM:276300
Microphthalmia, Syndromic 2
Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:300166
Proteus Syndrome
Gray matter heterotopia, Lymphedema, Arteriovenous malformation, Sirenomelia, Thymus hyperplasia,... ORPHA:744
Genitopatellar Syndrome
Polyhydramnios, Periventricular heterotopia, Ventricular septal defect, Atrial septal defect, Pac... OMIM:606170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma OMIM:619539
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy ORPHA:649
Mowat-Wilson Syndrome
Patent ductus arteriosus, Asplenia, Periventricular heterotopia, Abnormal cardiac septum morpholo... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Periventricular heterotopia, Bicus... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Periventricular heterotopia, Bicuspid aortic valve, Coarctation of aorta, Pulmonary art... ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Pip5k1c

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 Pip5k1c.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pip5k1ctm1a(KOMP)Wtsi