Gene Summary

Name:
plexin C1
Synonyms:
2510048K12Rik,  CD232,  vespr

IMPC Data Collections

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 insulin level Plxnc1em1(IMPC)Mbp HOM Early adult 3.23×10-07
small spleen Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating cholesterol level Plxnc1em1(IMPC)Mbp HOM   Early adult 3.75×10-06
small kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Plxnc1em1(IMPC)Mbp HOM   Early adult 4.77×10-05
increased circulating total protein level Plxnc1em1(IMPC)Mbp HOM   Early adult 1.35×10-05
abnormal spleen morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Plxnc1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Plxnc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria OMIM:615412
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:615411
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Simplified gyral pattern, Pachygyria, Polymicrogyria, Gray mat... OMIM:604317
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... OMIM:301033
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Ataxia, Increased circulating ... ORPHA:158048
Microlissencephaly
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Subcortical he... ORPHA:1083
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Increased red blood cell count, Hyperuricemia, Hypercholester... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Lymphadenopathy, Elevated circulating creati... ORPHA:29073
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Lissencephaly 3
Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Hy... ORPHA:181393
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Decreased circu... OMIM:616829
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephro... ORPHA:85445
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... ORPHA:79237
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Dysmetria, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hyp... OMIM:606721
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... ORPHA:90301
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... ORPHA:280356
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad... ORPHA:730
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hypoglycemia, Hepatocellular carc... OMIM:276700
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperactivity, Ataxia, Hypertrigl... ORPHA:363400
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Decreased pl... OMIM:608836
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... ORPHA:263455
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232200
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hypoglycemia, Hepatocellular carci... OMIM:232220
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... OMIM:278000
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypoa... OMIM:602579
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnorma... ORPHA:71212
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... OMIM:262190
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... ORPHA:251004
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Urinary bladder sphincter dysfunction, Elevated circulating creatine ki... ORPHA:64753
Leptospirosis
Hepatomegaly, Hyperproteinemia, Lymphadenopathy, Hepatitis, Acute kidney injury, Thrombocytopenia... ORPHA:509
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Cirrhosis, Hepatic steatosis, Hy... ORPHA:528
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Hypoproteinemia, Splenomegaly, Thyroid ... OMIM:235255
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Dengue Fever
Hypoproteinemia, Hepatomegaly, Leukopenia, Thrombocytopenia, Lethargy ORPHA:99828
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma, Hyperinsulinemia ORPHA:2849
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Ne... ORPHA:79259
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Elevated cir... ORPHA:449395
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Hypercholesterolemia, Conjuga... OMIM:619662
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Retinitis Pigmentosa
Hypogonadism, Hypoplasia of penis, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis, Del... ORPHA:633
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hydronephrosis, Anemia, Abnormality of the pancreas, Diabetes melli... ORPHA:2315
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellu... ORPHA:370
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, El... ORPHA:79240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Hypoproteinemia, Splenomegaly, Hepatosp... ORPHA:1655
H Syndrome
Lymphadenopathy, Abnormality of the kidney, Hypogonadism, Hepatosplenomegaly, Microcytic anemia, ... ORPHA:168569
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Myoglobinuri... ORPHA:264580
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyce... OMIM:277460
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, P... ORPHA:79319
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced proportion o... ORPHA:90362
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... ORPHA:69663
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase con... ORPHA:26793
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:618348
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Bangstad Syndrome
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... ORPHA:1227
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Smith-Magenis Syndrome
Abnormality of the urinary system, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abn... OMIM:182290
Cog4-Cdg
Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Ataxia, Thrombocytopenia ORPHA:263501
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Chédiak-Higashi Syndrome
Neutropenia, Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatos... ORPHA:167
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Long penis, Insulin resistance, Nephr... ORPHA:508
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Enlarge... OMIM:200995
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... OMIM:608022
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty ORPHA:254531
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Bone marrow hypocellularity, Hepatospl... ORPHA:505248
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thyroglob... ORPHA:90674
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Precocious puberty, Pancreatic... OMIM:246200
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... ORPHA:77296
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Pachygyria, Polymicrogyria, Gray matter heterotopia, Lissencephaly ORPHA:300573
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria OMIM:614563
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Lissencephaly 6 With Microcephaly
Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... OMIM:616212
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Nephroca... OMIM:130650
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... OMIM:609049
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Smith-Magenis Syndrome
Gait disturbance, Abnormality of the ureter, Abnormal localization of kidney, Hypercholesterolemi... ORPHA:819
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:613327
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Jaundice OMIM:608093
Beckwith-Wiedemann Syndrome
Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci... ORPHA:116
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... OMIM:151660
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... ORPHA:230
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension ORPHA:401923
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Insulin resistance, Insulin... ORPHA:769
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney ORPHA:276280
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... OMIM:608594
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Acalvaria
Abnormality of neuronal migration ORPHA:945
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vacuolated lympho... ORPHA:275761
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... OMIM:269700
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypothyroidism, ... ORPHA:90065
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Renal tubular aci... OMIM:118450
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Steatorrhea, ... ORPHA:699
Mirage Syndrome
Hypospadias, Hyponatremia, Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Leukopenia, Anemia,... OMIM:617053
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Ci... OMIM:300972
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty ORPHA:96184
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Woodhouse-Sakati Syndrome
Dystonia, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estr... ORPHA:3464
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Torticollis, Hepatic cysts, Hypop... ORPHA:79328
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly ORPHA:89844
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... ORPHA:453533
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent ... ORPHA:2126
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Micropenis, Male hypogonadism, Proteinuria OMIM:619471
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia, Primary hypothyroidism OMIM:249310
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Enlarged kidney OMIM:608978
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat... OMIM:137920
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Multilobula... OMIM:601186
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Hypothyroidism ORPHA:2479
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Attention defici... OMIM:176270
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc... ORPHA:534
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... ORPHA:899
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Subcortical heterotopia, Gray matter heterotop... OMIM:614643
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Pulmonary carcinoid tumor, Hyper... ORPHA:363618
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... ORPHA:2211
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly OMIM:615287
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... ORPHA:35107
Biliary, Renal, Neurologic, And Skeletal Syndrome
Splenomegaly, Increased circulating ferritin concentration, Anterior pituitary hypoplasia, Medull... OMIM:619534
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Hepatoblast... OMIM:312870
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Second... ORPHA:273
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... ORPHA:99413
Turner Syndrome
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... ORPHA:881
Mosaic Monosomy X
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... ORPHA:99228
Monosomy X
Horseshoe kidney, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intoleranc... ORPHA:99226
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Elevated maternal serum alpha-fetoprotein, Proximal re... OMIM:309000
Atypical Werner Syndrome
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... ORPHA:79474
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Type II lissencephaly, Polymicrogyria ORPHA:370959
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Polymicrog... ORPHA:2671
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Van Maldergem Syndrome 1
Subcortical band heterotopia, Periventricular nodular heterotopia, Simplified gyral pattern, Pach... OMIM:601390
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis,... ORPHA:391665
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Hyperinsulinemic hypoglycemia, Bone marr... ORPHA:2968
Juvenile Polyposis Syndrome
Hypoproteinemia, Anemia, Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arte... ORPHA:2929
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Pmm2-Cdg
Hepatic fibrosis, Nephrotic syndrome, Insulin resistance, Hypogonadotropic hypogonadism, Abnormal... ORPHA:79318
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria, Periventricular heter... ORPHA:75857
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Polymicrogyria, Periventricular nodular heterotopia OMIM:618918
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Lissencephaly ORPHA:468631
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Vici Syndrome
Gray matter heterotopia OMIM:242840
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia OMIM:311200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Arima Syndrome
Gray matter heterotopia OMIM:243910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Pachygyria OMIM:210710
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia OMIM:236680
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia ORPHA:261552

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 Plxnc1

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 Plxnc1.

No publications found that use IMPC mice or data for Plxnc1.

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MGI Allele Allele Type Produced
Plxnc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Plxnc1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Plxnc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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