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
persistence of hyaloid vascular system Pip5k1ctm1b(KOMP)Wtsi HET Early adult 3.15×10-05
edema Pip5k1ctm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Pip5k1ctm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Pip5k1ctm1b(KOMP)Wtsi HET Early adult 3.81×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Skull Lateral Orientation

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

Gross Morphology Embryo E18.5

Images

4 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 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
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema OMIM:619367
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Intrauterine growth retardation, Pachygyria, Agyria, Gray matter he... OMIM:615411
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Varicose veins, Atr... OMIM:617300
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Simplified gyral pattern, Pachygyria, Polymicrogyria, Gray mat... OMIM:604317
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion OMIM:260900
Chilblain Lupus 2
Edema OMIM:614415
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria OMIM:615412
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:607432
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... OMIM:300049
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria OMIM:600348
Lymphatic Malformation 3
Lymphedema OMIM:613480
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Microlissencephaly
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Subcortical he... ORPHA:1083
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
White Sponge Nevus 2
Edema OMIM:615785
Acalvaria
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus ORPHA:945
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema, Hydrocephalus, Gray matter heterotopia, Lissencephaly OMIM:617822
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Polyhydramni... ORPHA:1041
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Splenomegaly, Pulmonic stenosis, Pleural effusion, Hydrops fetalis ORPHA:2414
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Edema, Hepatosplenomegaly, Abnormal cardiac septum morphology OMIM:608776
Lissencephaly 3
Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:611603
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia ORPHA:101029
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Edema, Coarctation of aor... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Cardiomegaly... OMIM:115197
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Ventricular septal defect, Pericardial effusion, Thyroid lymphangiectasia, Intestinal... OMIM:235510
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... ORPHA:555874
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Fetal ascites, Neutropenia, Pericardial effusion, Leukopenia, Anemia, ... ORPHA:292
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Dysgyria ORPHA:352682
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphoproliferative Syndrome 1
Pericardial effusion, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased pr... OMIM:613011
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Splenomegaly, Abnormal heart valve morphology, Small v... ORPHA:36412
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Pericarditis, Pericardial effusion ORPHA:231111
Lymphatic Malformation 10
Lymphedema OMIM:619369
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Edema, Anemia, Intestinal ly... ORPHA:90362
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Holoprosencephaly, Patent ductus arteriosus, Polyhydramnios, I... ORPHA:93274
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria OMIM:619602
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation, Gray matter hetero... OMIM:219730
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Ventricular septal defect, Hypoplastic left heart, Intrauterin... ORPHA:2772
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Intrauterine growth retardation, Microlissencephaly, Atrial se... ORPHA:89844
Subependymal Nodular Heterotopia
Meningocele, Abnormality of neuronal migration, Myelomeningocele, Polymicrogyria, Gray matter het... ORPHA:101030
Thanatophoric Dysplasia
Intrauterine growth retardation, Patent ductus arteriosus, Polyhydramnios, Increased nuchal trans... ORPHA:2655
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Gaucher Disease Type 1
Pericardial effusion, Leukopenia, Ascites, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thr... ORPHA:77259
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Polyhydramnios ORPHA:1314
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Gray matter he... OMIM:207950
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2216
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Type II lissencephaly OMIM:615191
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Periventricular hetero... OMIM:618974
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Edema, Lymphopenia,... ORPHA:93552
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Falls, Bradykinesia, Abnormal synaptic transmission, Unsteady gait, Blepharo... ORPHA:683
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion, Splenomegaly ORPHA:92
Acute Interstitial Pneumonia
Reduced hematocrit, Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Aicardi-Goutieres Syndrome 9
Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema, Anemia, Left... OMIM:619487
Q Fever
Myocarditis, Abnormal vascular morphology, Pericarditis, Pericardial effusion, Endocarditis, Anem... ORPHA:781
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Abnormal pulmonary vein morphology, Pulmonary edema, Pedal edema, Pleural e... ORPHA:199241
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Lymphedema OMIM:618154
Periventricular Nodular Heterotopia
Periventricular heterotopia, Abnormal heart valve morphology, Patent ductus arteriosus, Aortic an... ORPHA:98892
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Exencephal... ORPHA:2211
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
3C Syndrome
Abnormality of neuronal migration, Ventricular septal defect, Abnormal mitral valve morphology, A... ORPHA:7
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Anemia, Splenomegaly, Abnormal heart valve morp... ORPHA:77261
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Abnormal myocardium morphology, Pericardial effusion ORPHA:300751
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Promi... ORPHA:536532
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... ORPHA:26793
Kaposiform Lymphangiomatosis
Pericardial effusion, Abnormal lymphatic vessel morphology, Anemia, Abnormal spleen morphology, S... ORPHA:464329
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Vascular dilatation, Pericardial effusion, Pleural effusion OMIM:108050
Poems Syndrome
Thrombocytosis, Pericardial effusion, Ascites, Polycythemia, Edema, Pleural effusion ORPHA:2905
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Intrauterine growth retardation, P... ORPHA:35107
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Pericardial effusion, Thrombocytopenia, Vac... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Thrombocytosis OMIM:212065
Hennekam Syndrome
Pulmonary lymphangiectasia, Pericardial effusion, Ascites, Chylothorax, Splenomegaly, Pachygyria,... ORPHA:2136
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion OMIM:618183
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal renal art... ORPHA:79328
Aymé-Gripp Syndrome
Pericarditis, Hydrocephalus, Pericardial effusion, Patent ductus arteriosus ORPHA:1272
Pagod Syndrome
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Abnormality of neuronal migra... ORPHA:991
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration, Syringomyelia ORPHA:2481
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Abnormal heart morphology, Syringomyelia ORPHA:531151
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Pachygyria, Polymicrogyria, Gray matter heterotopia, Lissencephaly ORPHA:300573
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Polyhydramnios, Increased nuchal translucency, Atrial septal defect, Hy... ORPHA:1860
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Hydrocephalus, Polyhydramnios OMIM:187600
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Pulmonary lymphangiomyomatosis, Hydrocephalus, Chylothorax ORPHA:538
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria OMIM:614563
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Joubert Syndrome
Abnormality of neuronal migration, Situs inversus totalis, Hydrocephalus, Polymicrogyria ORPHA:475
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Type II lissencephaly ORPHA:370959
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Pseudo-Torch Syndrome 2
Ascites, Patent ductus arteriosus, Polymicrogyria, Gray matter heterotopia, Thrombocytopenia OMIM:617397
Myhre Syndrome
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Coarctation of ... OMIM:139210
Fragile X Syndrome
Mitral valve prolapse, Periventricular heterotopia OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Ventricular septal defect, Atrial septal de... ORPHA:261236
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Lissencephaly 6 With Microcephaly
Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... OMIM:616212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Anencephaly OMIM:615287
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... ORPHA:453499
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Intrauterine growth retardation, P... ORPHA:2671
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Hydrocepha... ORPHA:899
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Cardiomegaly, Cardiomyopathy, Pachygyria, Hydrocephalus, Polym... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Cardiomyopathy, Pachygyria, Polymicrogyria, Hydrocephalus ORPHA:157
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Increased nucha... OMIM:618870
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormality of the spinal cord, Hydrocephalus ORPHA:99947
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern OMIM:615219
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion ORPHA:73224
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Pachygyria, Hydrocephalus, Polymicrogyria, Agyria, Subcortical heterotopia, Gray m... OMIM:614643
Holoprosencephaly
Abnormality of neuronal migration, Abnormality of the spleen, Ventricular septal defect, Abnormal... ORPHA:2162
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Abnormal heart morphology, Hydrocephalus, Vascular ... OMIM:311200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Generalized Arterial Calcification Of Infancy
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... ORPHA:51608
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Intrauterine growth retardation, Aqueductal stenosis ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Abnormality of neuronal migration, Cardiomegaly, Oligohydramnios, Polymic... OMIM:608836
Gitelman Syndrome
Iron deficiency anemia, Varicose veins, Pericardial effusion ORPHA:358
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Miller-Dieker Lissencephaly Syndrome
Intrauterine growth retardation, Abnormal heart morphology, Polyhydramnios, Pachygyria, Agyria, G... OMIM:247200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, Periventricular heterotopia OMIM:618929
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Complete atrioventricular canal defect, Ventricular septal defect, Ar... OMIM:236680
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Pericardial effusion, Leukopenia, Ascites, Splenomegaly, Neutrophilia,... ORPHA:99827
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pleural effusion, Pericardial effusion, Splenomegaly OMIM:181000
Radio-Tartaglia Syndrome
Gray matter heterotopia, Ventricular septal defect OMIM:619312
Bohring-Opitz Syndrome
Ventricular septal defect, Intrauterine growth retardation, Polyhydramnios, Atrial septal defect,... OMIM:605039
Vici Syndrome
Gray matter heterotopia, Cardiomyopathy ORPHA:1493
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Tetralogy of Fallot, Overriding aorta ORPHA:3186
Coffin-Lowry Syndrome
Abnormal aortic valve morphology, Abnormality of neuronal migration, Abnormal tricuspid valve mor... ORPHA:192
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Anencephaly, Myelomeningocele, A... ORPHA:2369
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Aortic root an... OMIM:610443
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormality of the spinal cord, Arteriovenous malformation ORPHA:53721
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Ventricular septal defect, Intrauterine growth retardation, Pa... ORPHA:464311
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus ORPHA:2318
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Abnormal heart morphology, Cardiomyopathy ORPHA:26791
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Increased mean corpuscular volume, Periventric... ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Ventricular septal defect, Polymicrogyria, Patent ductus arteriosus OMIM:214100
Keratoderma Hereditarium Mutilans
Abnormality of the spinal cord ORPHA:494
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2518
Cerebrofacioarticular Syndrome
Lymphedema, Abnormal heart morphology, Gray matter heterotopia, Pulmonic stenosis ORPHA:314679
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Abnormal heart morphology, Hydrocephalus, Umbilical hernia OMIM:305450
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Intrauterine growth retardation, Periventricular heterotopia, Abnormal hea... OMIM:612289
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Left ventricular hypertrophy, Decreased proportion of CD4... OMIM:242840
Solitary Bone Cyst
Abnormality of the spinal cord, Muscular edema ORPHA:83468
Asparagine Synthetase Deficiency
Exaggerated startle response, Simplified gyral pattern OMIM:615574
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Intrauterine growth retardation, Periventricular heterotopia ORPHA:255138
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Periventricular nodular heterotopia OMIM:619135
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic aneurysm, Bra... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic aneurysm, Bra... ORPHA:352665
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Type II lissence... OMIM:253800
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Splenomegaly ORPHA:1454
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Abnormal heart morphology ORPHA:2754
Van Maldergem Syndrome 1
Subcortical band heterotopia, Periventricular nodular heterotopia, Simplified gyral pattern, Pach... OMIM:601390
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Periventricular heterotopia, Holoprosencephaly, Patent ductus arterios... OMIM:615948
Tetrasomy 9P
Dextrocardia, Intrauterine growth retardation, Pericarditis, Abnormal mitral valve morphology, Ju... ORPHA:3310
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Intrauterine growth retardation, Coarctation of aorta, Stillbirth, Pachygyria, Atrial septal defe... OMIM:210710
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria OMIM:304050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Lobar holoprosencephaly, Periventricular heterotopia, Simplified... ORPHA:468631
Mosaic Trisomy 20
Ventricular septal defect, Intrauterine growth retardation, Dysplastic tricuspid valve, Abnormal ... ORPHA:1724
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Intrauterine growth retardation, Periventricular heterotopia, Holopros... OMIM:270400
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Superficial Siderosis
Abnormality of the spinal cord, Dysgyria, Atrophy of the spinal cord, Abnormal vertebral artery m... ORPHA:247245
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Exaggerated startle response OMIM:617527
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Intrauterine growth reta... ORPHA:98889
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Acute Disseminated Encephalomyelitis
Abnormality of the spinal cord, Cerebral edema, Myelitis ORPHA:83597
Pmm2-Cdg
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Anasarca, Impaired neutrophil ch... ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria, Periventricular heter... ORPHA:75857
Sandhoff Disease
Exaggerated startle response OMIM:268800
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Acute leukemia, Thrombocytopenia, Hemolytic anemia, Autoimmune... ORPHA:647
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of the spinal cord, Cerebral edema, Increased red blood cell count ORPHA:68
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Gray matter heterotopia, Polymicrogyria OMIM:618820
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Adrenomyeloneuropathy
Abnormality of the spinal cord, Dorsal column degeneration, Atrophy of the spinal cord ORPHA:139399
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
X-Linked Cerebral Adrenoleukodystrophy
Abnormality of the spinal cord, Myelopathy ORPHA:139396
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Polymicrogyria, Periventricular nodular heterotopia OMIM:618918
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Patent ductus arteriosus, Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Periventricular heterotopia OMIM:606170
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Xerostomia, Abnormality of the spinal cord, Normochromic anemia, V... ORPHA:289390
Mismatch Repair Cancer Syndrome 1
Leukemia, Gray matter heterotopia OMIM:276300
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Proteus Syndrome
Thymus hyperplasia, Sirenomelia, Splenomegaly, Gray matter heterotopia, Arteriovenous malformatio... ORPHA:744
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma OMIM:619539
Norrie Disease
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment, Ectopia lentis ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Periventricular heterotopia, Abnormal... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Asplenia, Periventricular heterotopia, Abnormal heart morphology, Coarctat... ORPHA:261537
Mowat-Wilson Syndrome
Bicuspid aortic valve, Asplenia, Periventricular heterotopia, Abnormal heart morphology, Coarctat... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213

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