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Gene: Man2c1 MGI:1920994

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

mannosidase, alpha, class 2C, member 1

Synonyms:

1110025H24Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Man2c1 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.

Human diseases associated with Man2c1 (1 diseases)
Human diseases predicted to be associated with Man2c1 (433 diseases)

The table below shows human diseases associated to Man2c1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Disorder Of Deglycosylation 2		Hamartoma of tongue, Partial agenesis of the corpus callosum, Macroglossia, High palate, Hypothal...	OMIM:619775

The table below shows human diseases predicted to be associated to Man2c1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vomiting, Hepatic fibrosis, Hepatic st...	OMIM:614480
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Secretory diarrhea, Vomiting	OMIM:620357
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing ...	OMIM:602579
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas...	ORPHA:3032
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology, Dehydration, Protracted diarrhea	OMIM:251850
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Peritoneal eff...	ORPHA:90362
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s...	OMIM:619445
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Lactose Intolerance, Adult Type	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223100
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea	OMIM:615863
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro...	OMIM:619377
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,...	OMIM:209920
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co...	OMIM:614602
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Cerebellar atrophy, Proteinuria, No...	OMIM:212065
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Microvillus Inclusion Disease	Villous atrophy, Diarrhea, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morpho...	ORPHA:2290
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Ileus, Chronic diarrhea, Hepatitis, Increased circulating Ig...	OMIM:304790
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Reduced natural killer cell activity, Splenomegaly, Secretory diarrhea, Enteroco...	OMIM:616050
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, High palate, Primary microcephaly	OMIM:618010
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy...	OMIM:608709
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di...	OMIM:615710
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Villous atrophy, Microcephaly, Diarrhea, Cerebral atrophy, High palate, Vomit...	OMIM:601110
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly	OMIM:610717
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg...	ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:619048
Mucolipidosis Iv	Cerebellar atrophy, Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callos...	OMIM:252650
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Microcephaly, Ethylmalonic aciduria, Increased level of methylsuccinic acid...	ORPHA:26792
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Malabsorption, Reactive hypoglycemia, Diarrhea, Hypoinsulinemia	OMIM:600955
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,...	OMIM:557000
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn...	ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 21	Increased cerebral lipofuscin, Hepatic steatosis, Hypoplasia of the corpus callosum, Cerebral atr...	OMIM:615918
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Microcephaly, Hypoplastic anterior limbs of the internal capsule, ...	ORPHA:171680
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Increased circulating IgE level, Duodenitis, Bloody diarrhea	OMIM:614328
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio...	OMIM:261680
Even-Plus Syndrome	Recurrent urinary tract infections, Dysplastic corpus callosum, Renal hypoplasia, High palate, Ve...	OMIM:616854
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Increased muscle lipid content, High palate, Macrovesicular hepatic steatos...	OMIM:608836
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Edema, Basal ganglia calcification, Hepatic fibrosis, Micropenis, Hepatic...	OMIM:619487
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Netherton Syndrome	Hypernatremic dehydration, Villous atrophy, Angioedema, Increased circulating IgE level, Decrease...	OMIM:256500
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Vomiting, Hepatic steatosis	OMIM:617872
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Chronic diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulati...	OMIM:619510
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Refractory Celiac Disease	Elevated hepatic transaminase, Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing e...	ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bilateral basal ganglia lesions, Microcephaly, Hepatic steatosis, Bloody diarrhea	OMIM:615119
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Fetal pyelectasis, Cerebral atrophy, Macroglossia, Hypoplasia of the ...	OMIM:616900
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus	OMIM:615703
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Polyhydramnios, R...	OMIM:243150
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Polyhydramnios, Abnormality of the pancreas, Splenome...	OMIM:222470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic steatosis, Renal insufficiency, Dicarboxylic aciduria, Cerebral calcificati...	ORPHA:228308
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Caudate atrophy, Insulin resistance, Hyperinsulinemia, Cerebral atrophy, Cirrhosis,...	ORPHA:363400
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Splenomegaly, Chronic diarrhea, Decreased circulating total ...	OMIM:614700
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Chronic diarrhea, Elevated circulating alanine aminotransferase concentration, Hepa...	OMIM:618805
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Hypoplasia of the corpus callosum, Hepatic steatosis, Hydr...	OMIM:615996
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta...	ORPHA:79303
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Increased hepatic glycog...	OMIM:261750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Alg1-Cdg	Abnormality of the gastrointestinal tract, Cerebellar atrophy, Renal insufficiency, Abnormality o...	ORPHA:79327
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Chronic diarrhea, Increased circulating IgE level, Decreased specific anti-polys...	OMIM:606367
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Protein-losing e...	ORPHA:79319
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Microcephaly, Cho...	ORPHA:541423
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise...	OMIM:201475
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac...	OMIM:614922
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula...	OMIM:619481
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis, Penile freckling	ORPHA:210548
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Microcephaly, Spl...	OMIM:251880
Alg9-Cdg	Cerebellar atrophy, Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia...	ORPHA:79328
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Aminoac...	OMIM:604273
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Decreased liver function, Abnormal cerebral morphology, Dysphagia, Focal...	ORPHA:70472
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin...	OMIM:619573
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Renal hypoplasia, Bloody diarrhea, Abnorm...	ORPHA:84064
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot...	ORPHA:298
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea	OMIM:246700
Fryns Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Polyhyd...	ORPHA:2059
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hepatic fibrosis, Hepatic steat...	ORPHA:280356
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Dysplastic corpus callosu...	ORPHA:488627
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Renal cyst, Cerebral atro...	ORPHA:445038
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Abnormality of the kidney...	ORPHA:369
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Hypospadias, Oligohydramnios	OMIM:620135
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis	OMIM:600649
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen...	ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter...	OMIM:619955
Ddost-Cdg	Elevated hepatic transaminase, Nephrotic range proteinuria, Constipation, Gastroesophageal reflux...	ORPHA:300536
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus ca...	OMIM:614924
Immunodeficiency 31C	Hepatomegaly, Villous atrophy, Diabetes mellitus, Splenomegaly, Diarrhea, Gastrointestinal eosino...	OMIM:614162
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Adrenomyodystrophy	Hepatic steatosis, Abnormality of the urinary system, Abnormal intestine morphology, Megacystis	ORPHA:977
Fanconi Anemia, Complementation Group W	Microcephaly, Renal hypoplasia, Polysplenia, Abnormal periventricular white matter morphology, Du...	OMIM:617784
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positive cerebral incl...	ORPHA:52430
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypoglycemia, Microcephaly, Microvesicular hep...	OMIM:619418
Glycogen Storage Disease Iv	Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly...	OMIM:232500
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Microcephaly, Bilateral renal hypoplas...	OMIM:243605
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, High, narrow palate, Diarrhea, C...	ORPHA:79322
Monosomy 13Q34	Microcephaly, Insulin resistance, Fetal pyelectasis, Hematochezia, Agenesis of corpus callosum, H...	ORPHA:96168
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Microcephaly, Periventricular cysts, Hepatosplenomegaly, Hepatic s...	OMIM:619013
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Diabetes mellitus, Portal infl...	ORPHA:101330
Pontocerebellar Hypoplasia Type 2	Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Gastroesophage...	ORPHA:2524
Microform Holoprosencephaly	Hypoplasia of penis, Renal agenesis, Maternal diabetes, Microcephaly, Cleft palate, Agenesis of c...	ORPHA:280200
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis	OMIM:613877
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Hyperglycemia, Secondary microcephaly, Periventricular white matter h...	OMIM:619737
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Diarrhea, Vomiting, Steat...	ORPHA:71
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,...	OMIM:615237
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol...	ORPHA:391487
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog...	OMIM:256810
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy...	OMIM:619111
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Very long chain fatty acid accum...	OMIM:261515
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen...	OMIM:614833
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H...	ORPHA:93111
Wilson Disease	Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomega...	OMIM:277900
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Kapur-Toriello Syndrome	Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Constipation, Pachygyria...	ORPHA:2328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Microcephaly, Focal polymicr...	OMIM:619103
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:614582
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hypodysplasia of the corpus callosum, ...	OMIM:257300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Myoglo...	OMIM:231530
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Micropenis, Polyhydramnios, Hepatomegaly	OMIM:618810
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, High palate, Dysphagia	OMIM:620001
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Hydrops fetalis, Polyhydramnios, Intestinal atresia	ORPHA:3405
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Diarrhea, Hematoc...	ORPHA:263665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Microcephaly, Pachygyria, Cortical dy...	ORPHA:468631
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus, Hepatic steatosis	OMIM:615980
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Hepatic melanin-like lysosomal...	OMIM:208085
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Splenomegaly, Diarrhea, Hepatitis, Decreased circulat...	OMIM:619381
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Microcephaly, Microvesicular hepatic steatosis, Cerebral atrophy, Cerebral co...	OMIM:616672
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia	ORPHA:1203
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropathy, Decreased circul...	OMIM:613502
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Microcephaly, Pachygyria, Agenesis of ...	ORPHA:452
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Cerebral calcification, Proteinuria, Microcephaly, Splenomegaly, Macroglossia, Neph...	OMIM:617303
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Chronic co...	OMIM:619179
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Diarrhea, Cholestasis, Protein-losing enteropathy, Decreased liver function,...	OMIM:608104
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatomegaly, Atrophic gastritis, Intracerebral periventricular calcification...	OMIM:615846
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepa...	ORPHA:247585
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, H...	OMIM:229850
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Diarrhea, Fasting hy...	ORPHA:71212
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Pyloric stenosis, Insulin resistance, Ileus, Hyperin...	OMIM:613327
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell...	ORPHA:79083
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Insulin resistance, Elevated circ...	OMIM:615381
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Cog8-Cdg	Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Protein-losing enteropathy, Atro...	ORPHA:95428
Pearson Syndrome	Hydrops fetalis, Renal cyst, Dehydration, Abnormality of the liver, Hepatic steatosis, Hepatomega...	ORPHA:699
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Macroglossia, Cirrhosis, H...	ORPHA:528
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steato...	ORPHA:2348
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Polyhydramnios, Microcephaly, Dehydration, Cerebral atrophy, 3-Methylglutacon...	OMIM:616271
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Edema, Malabsorption, Diarrhea, Steatorrhea, Hematoche...	ORPHA:2070
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Cerebral calcification, Hypogl...	OMIM:613658
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami...	OMIM:300972
Perlman Syndrome	Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastoma, Edema, Pol...	OMIM:267000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep...	ORPHA:228305
Cerebrofacioarticular Syndrome	Anal stenosis, Hypospadias, Lymphedema, Microcephaly, Dysplastic corpus callosum, Renal hypoplasi...	ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Celiac disease, Dysplastic corpus callosum, Increased nuchal translucency, Perive...	ORPHA:544488
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,...	OMIM:601847
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, ...	OMIM:270400
Esophageal Atresia	Barrett esophagus, Renal agenesis, Intestinal malrotation, Maternal diabetes, Polyhydramnios, Pyl...	ORPHA:1199
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Thick corpus callosum, Hyperi...	OMIM:617798
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Diarrhea, ...	ORPHA:348
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Hypospadias, Microcephaly, Insulin-resis...	ORPHA:2959
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Hepatomegaly	OMIM:619423
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cerebral atrophy, Cholestasis, Porta...	OMIM:614300
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Cerebral calcification, Pachygyria, Polymicrogyria, Red-brown urine, Stage 5 chroni...	ORPHA:157
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Microcephaly, Hepatic...	ORPHA:369840
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, ...	ORPHA:2308
Oculoskeletodental Syndrome	Nephrocalcinosis, Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Diaphanospondylodysostosis	Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Cleft palate, Horseshoe kid...	OMIM:608022
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,...	OMIM:243910
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Neurofibrillary tangles, Splenomegal...	OMIM:257220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Absent septum pellucidum...	OMIM:300868
Cimdag Syndrome	Hepatomegaly, Microcephaly, Microvesicular hepatic steatosis, Cerebral atrophy, Pontocerebellar a...	OMIM:619273
Alg6-Cdg	Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice	ORPHA:79320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Secon...	OMIM:616263
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu...	ORPHA:99901
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Gastroesophageal reflux, Microgastria, Agenesis of corpus callosum, He...	ORPHA:2538
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho...	OMIM:300048
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Hepatic steatos...	OMIM:212138
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ketonur...	ORPHA:20
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Abnormal basal ganglia MRI signal intensity, Hypogly...	ORPHA:17
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Microcephaly, Esophageal atresia, Submucous cleft hard...	OMIM:619227
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypoglycemia, Proteinuria, Diarrhea, Hepatocellular adenoma, Enterocolitis, Hypogly...	ORPHA:79259
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Polyhydramnios, Microcephaly, Oligohydramnios, Renal cyst...	ORPHA:464311
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Aciduria,...	OMIM:203700
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Hypoglycemia, Acute hepatic steatosis, Vomiting, Elevated urinary 3-methylcrotonylglyc...	OMIM:210200
Fanconi Anemia, Complementation Group F	Polyhydramnios, Microcephaly, Renal hypoplasia, Microphallus, Bone marrow hypocellularity, Vesico...	OMIM:603467
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Vomiting, Intestinal lymphedema, Increased stool alpha1-a...	ORPHA:90363
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Microcephaly, E...	ORPHA:391641
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Microcephaly, Pachygyria, Cleft palate, Lissencephaly, Hypoplasia of the corpus c...	OMIM:247200
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ...	OMIM:211600
19P13.12 Microdeletion Syndrome	Hypospadias, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum, Hepatic steatosis	ORPHA:254346
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral basal ganglia lesions, Hypoplasia of penis, Microvesicul...	ORPHA:66634
Vascular Hyalinosis	Cerebral calcification, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Fanconi Anemia, Complementation Group B	Renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Hypoplasia of the corpus callosum,...	OMIM:300514
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunction, Ami...	OMIM:220110
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Microcephaly, Asple...	ORPHA:99776
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Insul...	OMIM:203800
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Microcephaly, Pyloric stenosis, Oligohydramnios, Renal cy...	ORPHA:464306
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br...	OMIM:614946
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Decreased glomerular filtration rate, Hep...	ORPHA:470
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Diarrhea, Hyperinsulinemia, Renal Fanco...	ORPHA:263455
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate...	OMIM:235255
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Transient aminoaciduria...	OMIM:229600
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Polyhydramnios, Pancreatitis...	OMIM:155310
Feingold Syndrome	Microcephaly, Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia	ORPHA:1305
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resis...	ORPHA:79086
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, High palate, Hepatic steatosis, Pancreatitis	OMIM:236200
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,...	ORPHA:275761
Distal Deletion 12Q	Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Microcephaly, High, narr...	ORPHA:96149
Lipe-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Hepatomegaly	ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, 3-Methylglutaconic aciduria, Bil...	OMIM:618329
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Microcephaly, Hypoplastic anterior commissure, Renal cyst, Furrowed tongue, Gastroes...	OMIM:616975
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Polyhydramnios, Microcephaly, Increased nucha...	ORPHA:1052
Congenital Tracheal Stenosis	Abnormality of the kidney, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormalit...	ORPHA:141127
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Microcephaly, Cerebral atrophy, ...	OMIM:615356
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Micr...	OMIM:617156
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Polysplenia, Duodenal atresia	OMIM:619608
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo...	ORPHA:293964
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Cholangitis, Microvesicular hepa...	OMIM:124000
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Microcephaly, Submucous cleft hard palate, Cleft palate, Colpocephaly, Gas...	OMIM:301043
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long penis, Microcephaly	OMIM:190440
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly...	ORPHA:329971
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Medullary Thyroid Carcinoma	Diarrhea, Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morpholog...	ORPHA:1655
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Microcephaly, Pyl...	ORPHA:1606
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Aspl...	OMIM:265380
Niemann-Pick Disease, Type C2	Hepatomegaly, Polyhydramnios, Fetal ascites, Neurofibrillary tangles, Splenomegaly, Jaundice, Dys...	OMIM:607625
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Vomiting, Elev...	OMIM:619991
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques	OMIM:608907
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Decreased circulating antibod...	OMIM:618183
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u...	ORPHA:913
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Hypercalciuria, Lacunar stroke, Macroglossia, Mucopol...	OMIM:618440
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Central nervous system degen...	ORPHA:98907
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Polyhydramnios, Lymphedema	OMIM:618154
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Polyhydramnios, Microcephaly, Asplenia, Esophageal atresia, Ga...	OMIM:164280
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques	OMIM:605055
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Nonimmune hydrops fetalis, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Perica...	OMIM:235510
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi...	OMIM:611376
Duodenal Atresia	Duodenal atresia	OMIM:223400
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of...	ORPHA:139466
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ...	ORPHA:2092
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde...	ORPHA:512
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at...	OMIM:115470
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lewy bodies, Neurofibrillary tangles, Lateral ventricle dilatation, Neuronal loss in central nerv...	OMIM:607485
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Hypospadias, Ileal atresia, Absent septum pellucidum, Dysplastic corpus callosum...	OMIM:618820
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Hepatic fibrosis, Vomiting, Cirrho...	ORPHA:14
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front...	ORPHA:100070
Scedosporiosis	Diabetes mellitus, Pleural empyema, Abnormal jejunum morphology, Abnormal renal morphology	ORPHA:449280
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Renal steatosis, Hepatic steatosis	ORPHA:412
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Submucous cl...	OMIM:617140
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Nephrolithiasis, Glucose intolerance, Renal cell carcinoma, Hep...	ORPHA:189427
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Polyhydramnios, Posteriorly placed anus, Asplenia, Biliary atresia,...	OMIM:306955
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Increased ur...	ORPHA:247598
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypoglycemia, Hypospadias, Increased hepatocellular lipid droplets, Microcephaly, Micr...	OMIM:220111
White-Kernohan Syndrome	Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Anteriorly placed anus, Gastroesophage...	OMIM:619426
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly,...	OMIM:608594
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepatocellular necr...	OMIM:618278
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H...	ORPHA:99226
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Microcephaly, Renal hypoplasia, Micropenis, Hepatic st...	OMIM:619321
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Asplenia, Re...	OMIM:270100
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ...	ORPHA:444490
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis	ORPHA:280365
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Microcephaly, Gastroesophageal reflux, Constipation, High palate, Hepatic s...	OMIM:619934
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Decreased circul...	ORPHA:500150
Alzheimer Disease 3	Neurofibrillary tangles, Cerebral cortical atrophy, Dysphagia	OMIM:607822
Bloom Syndrome	Microcephaly, Decreased circulating total IgM, Type II diabetes mellitus, Decreased circulating I...	OMIM:210900
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Basal ganglia calcification, Cerebral calcification, Microcephaly	OMIM:617281
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques, Cerebral amyloid angiopathy	OMIM:606889
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Nodular regenerative hyperplasia...	ORPHA:404454
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, ...	OMIM:269700
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ...	OMIM:151660
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Microcephaly, Dysplastic corpus callosum, Cleft palate, Anteriorly placed anus, Chor...	OMIM:151050
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Tarp Syndrome	Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hepatic failure, Mecke...	OMIM:311900
Plasminogen Deficiency, Type I	Nephritis, Duodenal ulcer, Nephrolithiasis	OMIM:217090
Ogden Syndrome	Global glomerulosclerosis, Pulmonary edema, Maternal diabetes, Lymphedema, Microcephaly, Microves...	OMIM:300855
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Dysphagia, Lewy...	OMIM:610217
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypoketotic hypoglycemia	ORPHA:746
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Mosaic Variegated Aneuploidy Syndrome 2	Microcephaly, Duodenal atresia	OMIM:614114
Familial Adenomatous Polyposis 4	Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma	OMIM:617100
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Hepa...	ORPHA:73263
Trisomy 8P	Microcephaly, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Micropenis, Nephrocalc...	ORPHA:264450
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Diets-Jongmans Syndrome	Hypospadias, Thick corpus callosum, Polyhydramnios, Duodenal atresia	OMIM:618846
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu...	ORPHA:98908
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology...	ORPHA:1666
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Microcephaly, Asplenia, Abdominal situs inversus, Polysplenia, Agenesis o...	OMIM:605376
Iniencephaly	Renal agenesis, Polyhydramnios, Anencephaly, Lissencephaly, Anal atresia, Duodenal atresia	ORPHA:63259
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Partial agenesis of the corpus callosum, Macroglossia, High palate, Hypothal...	OMIM:619775
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Palpebral edema, Microcephaly, Hig...	OMIM:619475
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Coffin-Siris Syndrome 1	Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic kidney, Microcephaly, P...	OMIM:135900
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Adenomatous co...	ORPHA:733
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Hematemesis, Diarrhea, Insulinoma, Nephro...	ORPHA:652
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol...	ORPHA:79665
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie...	OMIM:107480
Sarcoidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Portal hypertension...	ORPHA:797
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Glucose intolerance, Focal segmental gl...	OMIM:619127
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cleft soft palate, Portal hypertension, Unilateral renal agenesis, Fetal ascites, Esophageal vari...	OMIM:619503
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Abnormality of the kidney, Adenomatous colonic polyposis, Desmoid tumors, Int...	ORPHA:261584
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma...	ORPHA:247806
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Impaired T cell function, Unilateral renal agenesis, Microc...	OMIM:188400
Supranuclear Palsy, Progressive, 1	Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degene...	OMIM:601104
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy	OMIM:616840
Genitopatellar Syndrome	Anal stenosis, Multicystic kidney dysplasia, Polyhydramnios, Microcephaly, Malrotation of small b...	OMIM:606170
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,...	ORPHA:79474
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Edema of the dorsum of hand...	OMIM:274000
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Cerebral cortex with spongiform changes	OMIM:606688
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Polymicrogyria, Wide penis, Vesicoureteral reflu...	ORPHA:3455
Aromatase Deficiency	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus	ORPHA:91
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small...	OMIM:175100
Fanconi Anemia	Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Recurrent urinary tract inf...	ORPHA:84
Tarp Syndrome	Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Hydro...	ORPHA:2886
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Supranuclear Palsy, Progressive, 2	Neuronal loss in basal ganglia, Neurofibrillary tangles, Granulovacuolar degeneration, Dysphagia,...	OMIM:609454
Charge Syndrome	Anal stenosis, Renal agenesis, Polyhydramnios, Microcephaly, Esophageal atresia, Tracheoesophagea...	OMIM:214800
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Cerebral cortical atrophy	ORPHA:1020
Witteveen-Kolk Syndrome	Hypospadias, Polyhydramnios, Phimosis, Microcephaly, Dysplastic corpus callosum, High, narrow pal...	OMIM:613406
Spondyloocular Syndrome	Duodenal ulcer, Lymphedema	OMIM:605822
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Diabetes ...	ORPHA:811
Gerstmann-Straussler Disease	Neurofibrillary tangles, Cerebellar atrophy	OMIM:137440
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, High, narrow palate, Thick corpus callosum, Gastroesophageal reflux, ...	OMIM:300967
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia...	ORPHA:199351
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Hypospadias, Maternal diabetes, Horseshoe kidney, Ante...	ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, Intestinal malrotation, Nephroblasto...	OMIM:312870
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Gastroesophageal reflux, Hepatic fib...	ORPHA:64
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Abnormal cortical gyration, Renal hypoplasia/ap...	OMIM:219000
Hypoplasminogenemia	Duodenal ulcer, Nephrolithiasis	ORPHA:722
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Absent septum pellucidum, Microcephaly, Malrotation of small bowel...	OMIM:194190
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, High, narrow palate, Pseudobulbar paralysis, Gastroesophageal reflux,...	ORPHA:466791
Whim Syndrome	Abnormal small intestine morphology, Parotitis, Decreased circulating antibody level	ORPHA:51636
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Impaired neutrophil chemotaxis, Lymphedema, Pericardi...	ORPHA:79318
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Constipatio...	OMIM:601776
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Renal artery stenosis, Renal steatosis	ORPHA:391665

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 Man2c1

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 Man2c1.

No publications found that use IMPC mice or data for Man2c1.

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
Man2c1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Man2c1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Man2c1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Man2c1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Man2c1^{tm212003(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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