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 HDL cholesterol level Plxnc1em1(IMPC)Mbp HOM Early adult 4.53×10-05
increased circulating calcium level Plxnc1em1(IMPC)Mbp HOM Early adult 5.99×10-05
abnormal spleen morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating total protein level Plxnc1em1(IMPC)Mbp HOM   Early adult 1.35×10-05
abnormal retina morphology Plxnc1em1(IMPC)Mbp HOM   Early adult 6.70×10-05
increased circulating cholesterol level Plxnc1em1(IMPC)Mbp HOM   Early adult 6.12×10-06
increased vertical activity Plxnc1em1(IMPC)Mbp HOM   Early adult 6.40×10-05
small kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
small spleen Plxnc1em1(IMPC)Mbp HOM Early adult 0.00

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 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
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Glycogen Storage Disease Vi
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... OMIM:232700
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... OMIM:616963
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly... ORPHA:29073
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... ORPHA:158048
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrol... OMIM:145001
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia ORPHA:2668
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... OMIM:616828
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu... OMIM:616829
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hype... ORPHA:69077
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Proteinuria, Polyphagia, Episodic hemolytic anemia, I... ORPHA:251004
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased HDL cholesterol concentration, Abnormal ea... ORPHA:247585
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... OMIM:615703
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Nephrocalcinosis, Blue urine ORPHA:94086
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Leptospirosis
Acute kidney injury, Hepatitis, Macular cotton wool spot, Chorioretinitis, Retinal hemorrhage, Op... ORPHA:509
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien... OMIM:604387
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Mediastinal lymphadenopathy, Increased circulating cortisol level, Neopl... ORPHA:97289
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Hypercalcemia OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Anemia, Hypophosphatemia, Hypercalciu... OMIM:239200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Myopathy, Tubular Aggregate, 2
Falls, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... OMIM:616730
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... OMIM:232220
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Hypertensive r... ORPHA:94080
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Chor... OMIM:617303
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Anemia, Hypercalciuria, ... OMIM:241500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Decreased renal tubular phosp... OMIM:211900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... ORPHA:284426
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hepatomegaly, ... OMIM:618440
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... OMIM:232200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Gait imbalance, Elevated circulating crea... ORPHA:64753
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Smith-Magenis Syndrome
Abnormality of the urinary system, Head-banging, Onychotillomania, Self-mutilation, Abnormal rena... OMIM:182290
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypertensive retinopathy, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Hypercalcemia OMIM:617994
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Hydronephrosis, Thyroid lymphangiectasia... OMIM:235255
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Galactokinase Deficiency
Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ... ORPHA:79237
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hydronephrosis, Hepa... ORPHA:1655
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang... OMIM:619662
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Cog4-Cdg
Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia, Ataxia ORPHA:263501
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine... ORPHA:247598
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Nephrolithiasis ORPHA:163693
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas, Abnormality of the kidney ORPHA:2591
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Inability to walk, Renal artery... OMIM:617913
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, H... ORPHA:276621
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Lymphadenitis, Cholestasis, Vesicoureteral reflux, Leukocytosis, Splenomegaly, ... OMIM:615895
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne... ORPHA:99880
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep... OMIM:226300
Lysinuric Protein Intolerance
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, O... ORPHA:470
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne... ORPHA:143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity... ORPHA:476126
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... OMIM:277460
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased circulating cortis... ORPHA:95409
Pheochromocytoma
Elevated urinary norepinephrine level, Renal artery stenosis, Proteinuria, Hypertensive retinopat... OMIM:171300
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... OMIM:620454
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice, Hypoproteinemi... ORPHA:167
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia ORPHA:2494
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Elevated urinary dopamine level, Elevated urinary norepinephrine le... ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal potassium wasting, Re... OMIM:601678
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hydronephrosis, Anemia, Hypoplasia of penis, Hypospadias, Hypo... ORPHA:2315
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Smith-Magenis Syndrome
Self-injurious behavior, Abnormality of the ureter, Renal hypoplasia/aplasia, Attention deficit h... ORPHA:819
Hemimegalencephaly
Pachygyria, Abnormal neuron morphology, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Elev... ORPHA:449395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Inability to walk, Heparan sulfate e... ORPHA:505248
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Dengue Fever
Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Difficulty walking, Exercise-induced myoglobinu... ORPHA:99845
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypoproteinemia, Aggressive behavior OMIM:608093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Xanthelasma, Stage 5 chronic kidney dise... ORPHA:79259
Spinal Cord Injury
Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulati... ORPHA:199299
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Renal tubular acidosis, Hepatic steatosis, Elevat... ORPHA:264580
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Hypertriglycer... ORPHA:168569
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Hypocalcemia, Nephrolithiasis, Polyphagia, Cystinuria OMIM:606407
Addison Disease
Normocytic anemia, Thymoma, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia... ORPHA:85138
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Stage 5 chro... OMIM:609049
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Re... ORPHA:412
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Monosomy 13Q34
Hypercalcemia, Hepatic steatosis, Fetal pyelectasis ORPHA:96168
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Ane... OMIM:613824
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... ORPHA:369837
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Proteinuria, Papilledema, Pancreatitis, Hypercholesterolemia, Rod-co... OMIM:619471
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria ORPHA:300573
Congenital Generalized Lipodystrophy
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... ORPHA:528
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal deg... OMIM:615558
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Vipoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97282
Somatostatinoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97283
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the p... ORPHA:97278
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Cholestasis, Ex... OMIM:300972
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the t... ORPHA:97261
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hypernatriuria, Abnormal urine potassium concentration, Xanthelasma, Hepatosple... ORPHA:275761
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly OMIM:259700
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... ORPHA:186
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatremia, Elev... ORPHA:247353
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Duplicated collecting system, Renal hypoplasia, Pigmentary re... OMIM:118450
Albers-Schönberg Osteopetrosis
Anemia, Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
X-Linked Agammaglobulinemia
Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutrop... ORPHA:47
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia, Abnormal retinal morphology ORPHA:89844
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hypokalemia, Hyponatre... ORPHA:31824
Glucagonoma
Intrahepatic cholestasis, Increased circulating cortisol level, Acanthocytosis, Neoplasm of the p... ORPHA:97280
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Cervical lymphadenopathy, Elevated urinary vanillylmandeli... ORPHA:653
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Gait disturbance, Hypocalcemia, Nephrolithiasis ORPHA:93160
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros... ORPHA:2237
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... ORPHA:94093
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia OMIM:175500
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Difficulty walking, Antalgic gait, Hypophosphatemia, Hyperc... ORPHA:249
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hypercholesterolemia, Left ventricular hypertrophy, Leukocytosis ORPHA:90065
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:94089
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Tip-toe gait, Splenomegaly, Cardiomegaly, Mucopolysaccharidu... OMIM:252500
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia, Hy... OMIM:612462
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Hepatitis, Hypomagnesemia, Hypocalcemia, Autoimmune hemolyti... ORPHA:37042
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypochromic anemia, Difficulty walking, Leukocytosis, Hypocalcemia, Sp... ORPHA:289157
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf... ORPHA:116
Multiple Endocrine Neoplasia, Type I
Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Neuhauser Syndrome
Retinal detachment, Hypercholesterolemia, Dysphagia, Ataxia OMIM:249310
Multiple Endocrine Neoplasia Type 4
Thymoma, Increased circulating cortisol level, Increased urinary cortisol level, Insulinoma, Rena... ORPHA:276152
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Autosomal Dominant Hypocalcemia
Optic atrophy, Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria,... ORPHA:428
Acalvaria
Abnormality of neuronal migration ORPHA:945
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hyponatremia, Hypoplas... OMIM:617053
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Optic atrophy, Pancytopenia, Distal renal tubular acidosis, Elliptoc... ORPHA:2785
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia... OMIM:259720
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Williams Syndrome
Overfriendliness, Ataxia, Cholelithiasis, Renal insufficiency, Dysmetria, Renal duplication, Atte... ORPHA:904
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Difficulty walking, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Gait disturbance ORPHA:352540
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Tip-toe gait, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Di... ORPHA:746
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Leprechaunism
Nephrocalcinosis, Long penis, Hyperaldosteronism, Hypokalemia, Hypercalciuria, Enlarged ovaries, ... ORPHA:508
Sarcoidosis
Nephrocalcinosis, Abnormal lymph node morphology, Hemolytic anemia, Leukopenia, Renal insufficien... ORPHA:797
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Increased urinary cortisol level, Jaundice, Hypercalcemia, ... ORPHA:913
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Attention deficit ... ORPHA:90674
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chorioretinal dysplasia, Motor ster... ORPHA:534
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypercholesterolemia, Ataxia ORPHA:2479
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Anemia, Retinal calcifi... OMIM:127000
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Recurrent urinary tract infections, Elevated circulating creatinine c... ORPHA:36234
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Retinal arterio... OMIM:194050
Cholera
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl... ORPHA:173
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia OMIM:600081
Glutathionuria
Gray matter heterotopia OMIM:231950
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Nephroblasto... ORPHA:500095
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Inappropriate laughter, Hypocalcemia, Ataxia OMIM:618476
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Retinal detachment, Hypospadias, Hypocalcemia OMIM:607143
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Multiple Endocrine Neoplasia Type 1
Thymoma, Increased circulating cortisol level, Insulinoma, Primary hypercortisolism, Nephrolithia... ORPHA:652
Timothy Syndrome
Cardiomegaly, Hypocalcemia OMIM:601005
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom... OMIM:306955
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Bruxism, Motor stereotypy, Polyphagia, Att... OMIM:615873
Ogden Syndrome
Polycythemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Cardiomegaly, Motor stereotyp... OMIM:300855
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Addictive alcohol use, D... ORPHA:31826
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr... OMIM:151660
Prader-Willi Syndrome
Self-injurious behavior, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit h... OMIM:176270
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hennekam Syndrome
Horseshoe kidney, Lymphopenia, Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiec... ORPHA:2136
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Hypomagnesemia, Hypoca... ORPHA:358
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... OMIM:601186
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Steatorrhea OMIM:212750
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma, Hypercholesterolemia,... ORPHA:363618
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Gait ataxia, Dysmetria, Recurrent pancreatitis, Hypercholesterolemia, Pol... OMIM:606721
Sotos Syndrome
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... ORPHA:821
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79444
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Igg4-Related Thyroid Disease
Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis, Dysphagia, Retroperitoneal fibrosis ORPHA:64744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... OMIM:614643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephrosis, Anemia, Thrombocytopenia, M... ORPHA:163979
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, Decreased urine ... ORPHA:544482
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Patent urachus, En... OMIM:618280
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Neoplasm of the th... ORPHA:744
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypocalcemia, Splenomegaly, Anemia, Hypophosphatemia, Lymphadenopathy, H... ORPHA:667
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Cranioectodermal Dysplasia 1
Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Renal magnesi... OMIM:218330
Craniofacioskeletal Syndrome
Hydronephrosis, Absent gallbladder, Hypospadias, Hypocalcemia OMIM:300712
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormality of retinal pigmentation, Anemia, Mucopolysacchariduria, Neutropenia, He... ORPHA:175
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79443
22Q11.2 Deletion Syndrome
Optic atrophy, Renal hypoplasia, Cholelithiasis, Retinal arteriolar tortuosity, Vesicoureteral re... ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic f... OMIM:619534
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Hypocalcemia, Hair-pulling, Hydrone... OMIM:620330
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Velocardiofacial Syndrome
Aggressive behavior, Hypocalcemia, Retinal vascular tortuosity OMIM:192430
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Nephro... OMIM:312870
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Recurrent urinary tract infections, Cholestasis, Pancytopenia, Portal hypertensi... OMIM:613658
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hepatic steatosis, Hypocalcemia, ... OMIM:188400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... ORPHA:391665
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Hypocalcemic tetany, Decreased proportion of naive T cells, A... ORPHA:83471
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Anemia, Retinal calcification, Hypocalcemic ... ORPHA:93325
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Steinert Myotonic Dystrophy
Cholelithiasis, Falls, Oral-pharyngeal dysphagia, Inability to walk, Obsessive-compulsive trait, ... ORPHA:273
Juvenile Polyposis Syndrome
Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Hypoproteinemia, Ne... ORPHA:2929
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Cholestasis, Br... OMIM:619503
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Charge Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the thymus, Renal agenesis, Retinal coloboma, Horseshoe k... OMIM:214800
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Exocrine pancreatic insufficiency, Portal hypertensio... OMIM:243800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr... ORPHA:75857
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria OMIM:620024
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Periventricular heterotopia, Pachygyria, Lissencephaly, Simplified gyral pattern ORPHA:468631
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
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
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Vici Syndrome
Gray matter heterotopia OMIM:242840
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
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
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Gray matter heterotopia OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Polymicrogyria ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Polymicrogyria ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Polymicrogyria 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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