banner
Genes Phenotypes Help, News, Blog

Gene: Plxnc1 MGI:1890127

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Plxnc1em1(IMPC)Mbp HOM   Early adult 1.35×10-05
increased vertical activity Plxnc1em1(IMPC)Mbp HOM   Early adult 2.42×10-05
increased circulating calcium level Plxnc1em1(IMPC)Mbp HOM Early adult 5.99×10-05
small spleen Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating HDL cholesterol level Plxnc1em1(IMPC)Mbp HOM Early adult 4.53×10-05
abnormal spleen morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating cholesterol level Plxnc1em1(IMPC)Mbp HOM   Early adult 6.12×10-06
abnormal kidney morphology Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Plxnc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Plxnc1em1(IMPC)Mbp HOM   Early adult 6.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View 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
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia, Nephrocalcinosis OMIM:211000
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol... OMIM:232700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp... ORPHA:29073
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatitis, Nephrolithiasis, Pap... OMIM:145001
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalcemia, Renal insufficiency ORPHA:2123
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circu... OMIM:616829
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:300067
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Periventricular lamin... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Rhabdoid Tumor
Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Thrombocytopenia, Hypercalcemia, Neoplasm of ... ORPHA:69077
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis OMIM:239199
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Polyphagia, Episo... ORPHA:251004
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati... ORPHA:247585
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria, Hypercalcemia ORPHA:284400
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia ORPHA:75234
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Adamantinoma
Hypercalcemia ORPHA:55881
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Blue Diaper Syndrome
Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia ORPHA:94086
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Leptospirosis
Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioret... ORPHA:509
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly ORPHA:100025
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:145981
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-peptide level, Hypercholest... OMIM:620211
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hyperc... OMIM:239200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:207731
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls OMIM:615883
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Inability... OMIM:617303
Hypophosphatasia, Infantile
Anorexia, Anemia, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Ne... OMIM:241500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, Nephro... OMIM:211900
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Hypercalcemia,... OMIM:618440
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H... OMIM:232200
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Retinal detachment, Abnormal renal morphology, Hypera... OMIM:182290
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Cirrhosis, Hepatomega... OMIM:278000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Urinary bladder sphincter dys... ORPHA:64753
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Oculoskeletodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Hypertensive retinopathy, Hypercalcemia, Proteinuria OMIM:171420
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Nephrocalcinosis OMIM:146200
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C... ORPHA:90362
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Ata... OMIM:208920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Splenom... OMIM:235255
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of gala... ORPHA:79237
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Pancreatic lymphangiectas... ORPHA:1655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Renal insu... OMIM:608836
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypocalciuria, Hypomagnesiuria, Reduced rat... ORPHA:405
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Waddling gait, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia OMIM:156400
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cog4-Cdg
Cirrhosis, Thrombocytopenia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia ORPHA:263501
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hypophosphatemic rickets, Hepatomegaly, An... OMIM:276700
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Infantile Myofibromatosis
Abnormality of the kidney, Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Renal artery stenosis, H... OMIM:617913
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis, Elevated circu... OMIM:615895
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:99880
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal i... ORPHA:731
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Hypoa... OMIM:226300
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Decrease... ORPHA:470
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Parathyroid Carcinoma
Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal... ORPHA:143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Compulsive behaviors, Gait ataxia, Hypercalcemia, Motor stereotypy, Attenti... ORPHA:476126
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce... OMIM:277460
Acute Adrenal Insufficiency
Hyperkalemia, Renal salt wasting, Normocytic anemia, Anorexia, Hyperuricemia, Increased circulati... ORPHA:95409
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Pheochromocytoma
Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Proteinuria, Hyperte... OMIM:171300
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting OMIM:612089
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep... OMIM:620454
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Ataxia, Splenomegaly, Neutr... ORPHA:167
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:600348
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Retinal capillary hemangioma, Elevated urinary epinephrine level... ORPHA:29072
Johanson-Blizzard Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Exocrine pancreatic in... ORPHA:2315
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Smith-Magenis Syndrome
Hypertriglyceridemia, Renal hypoplasia/aplasia, Retinal detachment, Gait disturbance, Abnormality... ORPHA:819
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst... ORPHA:449395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Inability to walk, Nephrotic syndrome, Bone marrow hypoce... ORPHA:505248
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Difficulty walking, Recurrent ... ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypoproteinemia, Aggressive behavior OMIM:608093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, En... ORPHA:79259
Spinal Cord Injury
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction ORPHA:90058
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulatin... ORPHA:199299
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R... ORPHA:264580
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenome... ORPHA:168569
Addison Disease
Hyperkalemia, Renal salt wasting, Normocytic anemia, Anorexia, Hyperuricemia, Increased circulati... ORPHA:85138
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid... ORPHA:79240
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Nephrolithiasis, Cystine crystalluria, Cystinuria OMIM:606407
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Pierson Syndrome
Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,... OMIM:609049
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live... ORPHA:69663
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Renal s... ORPHA:412
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia ORPHA:36913
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia, Fetal pyelectasis ORPHA:96168
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Retinal degeneration, ... OMIM:613824
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc... ORPHA:369837
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Papilledema, Proteinuria, Micropenis, Rod-cone dystrophy, Ret... OMIM:619471
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lissencephaly ORPHA:300573
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hyperphosphaturia, Iron deficiency anemia, Hypophosphatemia ORPHA:89937
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Increased C-peptide level, H... ORPHA:528
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Pol... OMIM:200995
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Renal phosphate wasting, Hypocalcemia,... ORPHA:411634
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple... OMIM:185070
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Senior-Boichis Syndrome
Polydipsia, Tubular luminal dilatation, Cholestasis, Abnormal renal insterstitial morphology, Sta... ORPHA:84081
Vipoma
Anorexia, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, ... ORPHA:97282
Somatostatinoma
Anorexia, Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunctio... ORPHA:97283
Pearson Syndrome
Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Ataxia, Hypophosphatemia, Splenomegaly... ORPHA:699
Ppoma
Anorexia, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Inter... ORPHA:97278
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Decreased circulating copper concentration, Accessory... OMIM:300972
Grfoma
Anorexia, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Inter... ORPHA:97261
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentratio... OMIM:248250
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypocalcemia, Hypercalciuria, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Jaundice, Anemia, Renal salt wastin... ORPHA:275761
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome... ORPHA:186
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Optic atrophy, Anemia ORPHA:53
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Chorioreti... OMIM:118450
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
Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, Ca... OMIM:619991
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Oliguria, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia... ORPHA:31824
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Glucagonoma
Anorexia, Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochr... ORPHA:97280
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance, Nephrolithiasis ORPHA:93160
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Hyperuricemia, Hypocalcemia, ... ORPHA:94093
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Polycystic k... ORPHA:2237
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Fibrous Dysplasia Of Bone
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait, Increased circulating cortiso... ORPHA:249
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hypercholesterolemia, Leukocytosis, Left ventricular hypertrophy ORPHA:90065
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchar... OMIM:252500
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Hypoc... ORPHA:94089
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalce... OMIM:612462
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hepatomegaly, Difficulty walking, Generalized aminoaciduria, Hypocalcemia,... ORPHA:289157
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cortisol level OMIM:131100
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Multiple Endocrine Neoplasia Type 4
Abnormality of pancreas physiology, Insulinoma, Renal angiomyolipoma, Hypercalcemia, Thymoma, Inc... ORPHA:276152
Neuhauser Syndrome
Retinal detachment, Hypercholesterolemia, Ataxia, Dysphagia OMIM:249310
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
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia ORPHA:101030
Autosomal Dominant Hypocalcemia
Optic atrophy, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, ... ORPHA:428
Acalvaria
Abnormality of neuronal migration ORPHA:945
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Hyponatremia... OMIM:617053
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hepatomegaly, Anemia, Distal renal tubular acidosis, Pancytopenia, Hypocalcemia, R... ORPHA:2785
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, H... OMIM:259720
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Macular coloboma, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagne... OMIM:248190
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Ataxia, Multiple... ORPHA:904
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Giant cell hepatitis, S... OMIM:607765
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric... OMIM:174000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia OMIM:264700
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia, Hypospadias OMIM:610644
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Gait disturbance, Hyperphosphaturia, Hypophosphatemia ORPHA:352540
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Increased circulating ren... ORPHA:508
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Hypocalcemia, Cholestasis, Left ventricular hypertrophy, Pigmentary retinopathy, Di... ORPHA:746
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia, Increased urinary cortisol level, Extrahepatic cholestasis, Increased ci... ORPHA:913
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis OMIM:241410
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:90674
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hypocalcemia, Retinal calcification, Papilledema, Hyperphosph... OMIM:127000
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Hypophosphatemia, Hyperaldosteronism, Multiple renal cysts, Chorioretinal dyspl... ORPHA:534
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Motor stereotypy ORPHA:2479
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Renal insufficiency, Hypocalcemia, Recurrent urinary t... ORPHA:36234
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn... ORPHA:173
Williams-Beuren Syndrome
Obsessive-compulsive trait, Gait imbalance, Renal insufficiency, Hypercalciuria, Pelvic kidney, A... OMIM:194050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Glutathionuria
Gray matter heterotopia OMIM:231950
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Retinal coloboma, Transient neutropenia, Bifid ureter, Neph... ORPHA:500095
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Hypocalcemia, Inappropriate laughter, Ataxia OMIM:618476
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Retinal detachment, Hypospadias, Micropenis OMIM:607143
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Multiple Endocrine Neoplasia Type 1
Anorexia, Neoplasm of the pancreas, Hypercalciuria, Nephrolithiasis, Insulinoma, Hypercalcemia, T... ORPHA:652
Timothy Syndrome
Hypocalcemia, Cardiomegaly OMIM:601005
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia OMIM:617622
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morphology, Ureteral hy... ORPHA:79328
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperactivity, Recurrent urinary tract infections, Enuresis nocturna, Polyphagia... OMIM:615873
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul... OMIM:300855
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polyphagia, Micropenis, Attention ... OMIM:176270
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem... ORPHA:31826
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiect... ORPHA:2136
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Neoplasm of the pancreas, Urinary incontinence, Iron deficiency anem... ORPHA:358
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Renal insufficiency, Elevated circulating creat... OMIM:309000
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Renal hypoplasia, Hypoplastic spleen, Hydronephrosis, Renal... OMIM:601186
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Celiac Disease, Susceptibility To, 1
Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Ataxia, Thrombocytosis OMIM:212750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:248370
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Papillary... ORPHA:363618
Sotos Syndrome
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re... ORPHA:821
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Dysdiadochokinesis, Gait ataxia, Dysmetria, Dysphagia, Recurrent ... OMIM:606721
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocal... ORPHA:79444
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Hypocalcemia, Dysphagia, Pancreatic fibrosis, Retroperitoneal fibrosis ORPHA:64744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocytopenia, Absent g... ORPHA:163979
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Pancreatitis, Hypocalcemia, Anuria, Nephrotic range proteinuri... ORPHA:544482
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio... OMIM:618280
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Long penis, Retinal nonattachment, Neoplasm of the thymus, Re... ORPHA:744
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Optic nerve compression, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypop... ORPHA:667
Cranioectodermal Dysplasia 1
Hepatomegaly, Retinal dystrophy, Hypocalcemia, Stage 1 chronic kidney disease, Renal magnesium wa... OMIM:218330
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Craniofacioskeletal Syndrome
Hypocalcemia, Hydronephrosis, Hypospadias, Absent gallbladder OMIM:300712
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Hypocalcemia, Mucopolysacchariduria, Abnormality of retinal pigmentation, A... ORPHA:175
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocal... ORPHA:79443
22Q11.2 Deletion Syndrome
Optic atrophy, Hypospadias, Cholelithiasis, Hypocalcemia, Abnormality of the tonsils, Polycystic ... ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Hypocalcemia, Optic nerve hypoplasia, Polyphagia, Fi... OMIM:620330
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany OMIM:103580
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia ORPHA:370959
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Velocardiofacial Syndrome
Hypocalcemia, Retinal vascular tortuosity, Aggressive behavior OMIM:192430
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... 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
Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Recurrent urinary tract infections, Cholestasis, P... OMIM:613658
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Hypoplasia ... OMIM:188400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Homozygous Familial Hypercholesterolemia
Renal steatosis, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, R... ORPHA:391665
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... 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
Periventricular heterotopia, Pachygyria ORPHA:255138
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphos... ORPHA:93325
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Inability to walk, Cholelithiasis, Falls, Oral-pharyngeal dysphagia, ... ORPHA:273
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation, Hypoproteinemia, Extrahepat... ORPHA:2929
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Gray matter heterotopia OMIM:615219
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Tip-toe gait, Unilateral renal agenesis, Broad-based gait, Hypocalcemia, Pelvic kidney, Falls, Ch... 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
Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:157
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia 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
Hypocalcemia, Self-mutilation, Retinal coloboma, Renal agenesis, Renal hypoplasia, Hydronephrosis... OMIM:214800
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Gray matter heterotopia OMIM:619775
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:228308
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, Hepatomegaly, Hypospadias, Hypocalcemia, Portal hypertension, Increased... 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
Lissencephaly, Agyria, Gray matter heterotopia, 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
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter 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
Polymicrogyria, Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heter... ORPHA:75857
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria 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)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... 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
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Lissencephaly, Periventricular heterotopia 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
Polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:304050
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia OMIM:311200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Periventricular heterotopia, Gray matter 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, Polymicrogyria, Microlissencephaly, Gray matter heterotopia, Pachygyria OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:618820
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter 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
Polymicrogyria, Periventricular heterotopia, Simplified gyral pattern OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia OMIM:236680
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter