Not currently registered for phenotyping at IMPC

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

Gene Summary

fermitin family member 1
Kindlin-1,  5830467P10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Fermt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fermt1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fermt1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Villous atrophy, Protracted diarrhea, Malnutrition, Growth delay, Abnormal intestine... OMIM:251850
Lactase Deficiency, Congenital
Dehydration, Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... OMIM:616868
5-Oxoprolinase Deficiency
Prolinuria, Enterocolitis, Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Vomiting, I... OMIM:260005
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... OMIM:617006
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... OMIM:615237
Epidermolysis Bullosa Acquisita
Pruritus, Abdominal pain, Inflammation of the large intestine ORPHA:46487
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess, ... OMIM:613148
Linear Iga Dermatosis
Renal neoplasm, Pruritus, Inflammation of the large intestine ORPHA:46488
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Microvillus Inclusion Disease
Abdominal distention, Abnormal renal physiology, Dehydration, Diarrhea, Villous atrophy, Pruritus... ORPHA:2290
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Glycosuria, Chronic diarrhea, Hypertonic dehydration, Hypera... OMIM:606824
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Reticular Dysgenesis
Malabsorption, Skin rash, Dehydration, Diarrhea, Chronic otitis media ORPHA:33355
Coenzyme Q10 Deficiency, Primary, 3
Edema, Nephrotic syndrome, Proteinuria, Feeding difficulties OMIM:614652
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Ascites, Palmoplantar keratoderma, Abnor... ORPHA:2198
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Protein-losing enteropathy, Edema ORPHA:103910
Combined Malonic And Methylmalonic Aciduria
Dehydration, Diarrhea, Methylmalonic aciduria, Vomiting OMIM:614265
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Enteric Anendocrinosis
Dehydration, Malabsorption, Diarrhea, Vomiting ORPHA:83620
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Growth delay, Inflammation of the large intestine OMIM:615767
Familial Renal Glucosuria
Renal tubular dysfunction, Dehydration, Recurrent urinary tract infections, Nephropathy, Glycosur... ORPHA:69076
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Autosomal Agammaglobulinemia
High palate, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Dehyd... ORPHA:33110
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Dehydration, Diarrhea, Vomiting, Recurrent pneumonia, Edema OMIM:616069
Renal tubular dysfunction, Malabsorption, Aminoaciduria, Short stature, Dehydration, Nephropathy,... ORPHA:213
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Dibasic Amino Aciduria I
Argininuria, Malabsorption, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Netherton Syndrome
Malabsorption, Aminoaciduria, Skin rash, Short stature, Dehydration, Eczema, Ectopic kidney, Hydr... ORPHA:634
Multiple Intestinal Atresia
Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Dehydration, Gastroesophageal reflux, Methylmalonic aciduria OMIM:251120
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria, Edema OMIM:189800
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dehydration, Vomiting ORPHA:79159
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Osteootohepatoenteric Syndrome
Abdominal pain, Dehydration, Episodic vomiting, Ileoileal intussusception, Villous atrophy, Prote... OMIM:619377
Maternally-Inherited Diabetes And Deafness
Malabsorption, Constipation, Proteinuria, Renal insufficiency, Glomerulopathy ORPHA:225
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease OMIM:618969
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Immunodeficiency 76
Growth delay, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency 31C
Short stature, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Delayed pube... OMIM:614162
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula... ORPHA:567544
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Abdominal distention, Gastroesophageal reflux, Diffuse mesangial s... OMIM:256300
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the kidney, Dehydration, Abnormality of the urinary system, Intraute... ORPHA:99886
Combined Malonic And Methylmalonic Acidemia
Dehydration, Methylmalonic aciduria, Nasogastric tube feeding, Vomiting, Dicarboxylic aciduria, I... ORPHA:289504
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... OMIM:618108
Proximal Renal Tubular Acidosis
Nephrolithiasis, Growth delay, Malabsorption, Aminoaciduria, Mild postnatal growth retardation, S... ORPHA:47159
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria, Chron... OMIM:619858
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Dehydration, Myoglobinuria, Neonatal death, Vomiting OMIM:602199
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Hemoglobinuria, Pe... ORPHA:90038
Netherton Syndrome
Intestinal atresia, Hypernatremic dehydration, Allergic rhinitis, Villous atrophy, Angioedema, Er... OMIM:256500
Alpha-Heavy Chain Disease
Malabsorption, Abdominal pain, Abnormality of the small intestine, Growth delay, Ascites ORPHA:100025
Pyloric Atresia
Congenital pyloric atresia, Polyhydramnios OMIM:265950
Aa Amyloidosis
Malabsorption, Nephrotic syndrome, Chronic kidney disease, Abdominal pain, Abnormality of the kid... ORPHA:85445
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Diarrhea, Vomiting OMIM:610370
Lamellar Ichthyosis
Short stature, Dehydration, Chronic otitis media, Hyperkeratosis, Renal insufficiency, Pruritus, ... ORPHA:313
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Membranous... OMIM:618999
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Diarrhea, Vomiting, Feeding difficulties in infancy, Generalized amino... OMIM:606528
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne ORPHA:69126
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... OMIM:243150
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Vomiting, Myocarditis, Uve... ORPHA:810
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Dehydration, Neonatal death, Enlarged kidney, ... OMIM:263200
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Nephropathy, Hematuria, Proteinuria, Edema OMIM:105200
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Intrauterine growth retardation OMIM:618958
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... OMIM:608809
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Glomerulopathy, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:254900
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased fecal bile acid OMIM:613291
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Nephrocalcinosis OMIM:602722
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Pro... OMIM:209920
Alpha-Methylacetoacetic Aciduria
Dehydration, Vomiting OMIM:203750
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Short stature, Episodic vomiting, Feeding difficulties in infancy, Vill... OMIM:616050
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Protein-losing enteropathy OMIM:619063
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Abnormal renal coll... OMIM:616809
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... ORPHA:2070
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea, Intraut... OMIM:614602
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Celiac disease, Thyroiditis OMIM:618985
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Chronic Hiccup
Dehydration, Malnutrition ORPHA:396
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Chronic kidney disease, Abdominal pain, Abnormality of the kidney, Helicobacter pylori infection,... ORPHA:275555
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... OMIM:619281
Atresia Of Small Intestine
Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotation, Vomiting, Inte... ORPHA:1201
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Polyhydramnios, Neonatal death OMIM:612138
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Hyperechogenic kidneys, Inflammation of the large intestine, Hyperkera... OMIM:614576
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Intrauterine growth retardation OMIM:601410
Familial Cold Urticaria
Abdominal pain, Dehydration, Arthritis, Pruritus, Nausea and vomiting, Conjunctivitis ORPHA:47045
Propionic Acidemia
Constipation, Pancreatitis, Hyperglycinuria, Short stature, Eczema, Dehydration, Vomiting, Feedin... OMIM:606054
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Short stature, Eczema, Lymphadenitis, Acute pancreatitis, Pe... OMIM:618935
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Short stature, Unilateral renal agenesis, Hyperkeratosis, Renal insu... ORPHA:281090
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Sapho Syndrome
Malabsorption, Osteomyelitis, Pustule, Skin rash, Steatorrhea, Recurrent skin infections, Abdomin... ORPHA:793
Majeed Syndrome
Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammator... ORPHA:77297
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... OMIM:619445
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Feeding difficulties, Short stature, Proteinuria, Glomerular scl... OMIM:301006
Immunodeficiency 58
Dysuria, Bronchiectasis, Colitis, Short stature, Eczema, Chronic otitis media, Helicobacter pylor... OMIM:618131
Visceral Myopathy 1
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Polyhydramn... OMIM:155310
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Dehydration, Vomiting, Hypercalciuria, Nephrocalcinosis OMIM:143880
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Nausea and vomiting, Renal insufficiency ORPHA:28
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Dehydration,... ORPHA:93101
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Vomiting, Feeding difficulties in infancy, Growth delay, Renal salt wasting OMIM:203400
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... OMIM:615573
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Diarrhea, Vomiting, Hematuria, Proteinuria, Dark urine, Nephrotic syndrome, A... ORPHA:93552
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria, Hypercalciuria, L... OMIM:308990
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:256020
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea, Arthritis OMIM:613217
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent otitis media, Colitis, Conjunctivitis, Inflammation of the large intest... OMIM:614700
Pearson Marrow-Pancreas Syndrome
Malabsorption, Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Hepatic failure, Ste... OMIM:557000
Central Diabetes Insipidus
Anorexia, Dehydration, Diarrhea, Nocturia, Nausea and vomiting ORPHA:178029
Familial Mediterranean Fever
Pancreatitis, Constipation, Diarrhea, Pedal edema, Proteinuria, Pericarditis, Malabsorption, Neph... ORPHA:342
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, Protein... ORPHA:369
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... OMIM:618348
Early-Onset Familial Hypoaldosteronism
Feeding difficulties, Dehydration, Vomiting, Renal sodium wasting, Postnatal growth retardation ORPHA:556030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Abdominal pain, Feeding difficulties, Anorexia, Dehydration, Renal insufficiency, N... ORPHA:79312
Autoimmune Hepatitis
Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa... ORPHA:2137
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidne... OMIM:600995
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic constipat... ORPHA:261222
Chylous Ascites
Abnormal intestine morphology, Lymphedema, Pancreatitis, Ascites ORPHA:1160
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Systemic Sclerosis
Myocarditis, Proteinuria, Pruritus, Pericarditis, Albuminuria, Abnormal large intestine morpholog... ORPHA:90291
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Pruritus, Short stature OMIM:620010
Neoplasm of the rectum, Neoplasm of the colon, Dysuria, Inflammatory abnormality of the skin, Orc... ORPHA:556
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pyoderma Gangrenosum
Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine ORPHA:48104
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V... ORPHA:85450
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Glucose-Galactose Malabsorption
Nephrolithiasis, Abdominal distention, Dehydration, Diarrhea, Vomiting, Hematuria, Malnutrition, ... ORPHA:35710
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Diarrhea, Vomiting, Feeding difficulties in infancy, Renal salt wasting OMIM:264350
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis OMIM:618394
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... OMIM:300048
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Isovaleric Acidemia
Dehydration, Hyperglycinuria, Vomiting OMIM:243500
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema OMIM:618154
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastrointestinal tract, ... ORPHA:911
Reactive Arthritis
Joint swelling, Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Recurrent urinary tract infecti... ORPHA:29207
Distal Renal Tubular Acidosis
Nephrolithiasis, Growth delay, Constipation, Aminoaciduria, Decreased glomerular filtration rate,... ORPHA:18
Cednik Syndrome
Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Proteinuria, Short stature ORPHA:66631
Familial Mediterranean Fever, Autosomal Dominant
Abdominal pain, Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Hypercholanemia, Familial 1
Fat malabsorption, Pruritus, Steatorrhea OMIM:607748
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Pedal edema, Renal insufficiency, P... ORPHA:84090
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Feeding difficulties, Hepatic failure, Steatorrhe... ORPHA:275761
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Nephropathy, Intermittent diarrhea, Pedal edema, Proteinuria... ORPHA:330001
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Abdominal pain, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomeru... ORPHA:567548
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Hypocomplementemic Urticarial Vasculitis
Skin rash, Abdominal pain, Diarrhea, Hematuria, Arthritis, Angioedema, Pericardial effusion, Uvei... ORPHA:36412
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Harlequin Ichthyosis
Erythroderma, Dehydration, Hyperkeratosis ORPHA:457
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Abdominal pain, Diffuse mesangial sclerosis, Peritonitis, Focal segmental... ORPHA:656
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Colitis, Eczema... ORPHA:37042
Galloway-Mowat Syndrome 6
High palate, Nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinuria, ... OMIM:618347
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... ORPHA:157798
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Villous atrophy, Renal cyst, Protein-losing ent... OMIM:602579
Severe Generalized Junctional Epidermolysis Bullosa
Constipation, Ureteral obstruction, Vomiting, Urinary retention, Pneumonia, Gastrointestinal infl... ORPHA:79404
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Nausea and vomiting, Pancreatitis, Renal insufficiency ORPHA:27
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Urethral stricture, Esophageal stricture, Growth delay, Gastro... ORPHA:79409
Eosinophilic Granulomatosis With Polyangiitis
Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Abdominal pain, Endocarditis, Myosi... ORPHA:183
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease OMIM:603278
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Decreased glomerular filtration rate, Short stature, Hepatocellula... OMIM:232220
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Feeding difficulties, Dehydration... ORPHA:411634
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Esophageal neoplasm, Dyspepsia, Chronic kidney disease, Gastroesophageal reflux, Morph... ORPHA:1018
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:608709
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Feeding difficulties, Hydroureter, Pyloric stenosis, Postnatal growth retardatio... OMIM:617219
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... ORPHA:79327
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Meconium ileus, Dehydration,... OMIM:219700
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Aminoaciduria, Reduced renal... OMIM:208085
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Nephrogenic Diabetes Insipidus
Constipation, Feeding difficulties, Short stature, Anorexia, Hypernatremic dehydration, Hyposthen... ORPHA:223
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Feeding difficulties, Hypospadias, Palpebral edema, Esophagitis, Postnat... ORPHA:79350
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Pustule, Atopic dermatitis, Dehydration, Vomiting, Feeding difficulties in infancy... ORPHA:171876
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:613913
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Dehydration, Diarrhea, Vomiting, Proximal tubulopathy OMIM:560000
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Ulcerative colitis, Cutaneous abscess, Neutrophilic infiltration... ORPHA:555905
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Hydroureter, Neonatal death, Polyhydramnios, Hydronephrosis, Fetal megacyst... OMIM:619362
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... OMIM:106300
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Dehydration, Methylmalonic aciduria, Vomiting, Tubulointerstitial nephritis, Stage ... OMIM:251000
Abdominal cramps, Abnormality of renal excretion, Abdominal pain, Aspiration pneumonia, Dehydrati... ORPHA:173
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Dehydration, Renal salt wasting OMIM:610600
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Urethral stricture, Hyperkeratosis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Skin rash, Abdominal pain, Diarrhea, Inflammation of the large intest... OMIM:301074
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Donnai-Barrow Syndrome
Intestinal malrotation, Proteinuria ORPHA:2143
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Oligohydramnios... OMIM:619431
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Urethral stricture, Inflammation of... ORPHA:2908
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Eczema, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Arthritis, ... OMIM:616100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormal... ORPHA:2241
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis OMIM:614328
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu... ORPHA:544482
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Glossitis, Pneumonia, ... ORPHA:2552
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Renal agenesis, Hypoplasia of... ORPHA:139466
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Eczema, Lymphadenitis, Inflammation of the large intestine, Hematochezia, Chronic... OMIM:615895
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Protein-losin... OMIM:608104
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Polyhydramnios, Abnorma... ORPHA:2547
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Enterocolitis, Short stature, Eczema, Diarrhea, Esophageal ... ORPHA:391487
Constipation, Gastroesophageal reflux, Nephrotic range proteinuria, Short stature ORPHA:300536
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... ORPHA:67
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea, Hematuria, Renal insufficiency, Proteinuria, Acute kidney injury ORPHA:54057
Immunodeficiency 97 With Autoinflammation
Colitis, Enterocolitis, Abdominal pain, Recurrent skin infections, Eczema, Diarrhea, Recurrent ur... OMIM:619802
Cryoglobulinemic Vasculitis
Viral hepatitis, Abdominal pain, Hematuria, Arthritis, Gastrointestinal infarctions, Proteinuria,... ORPHA:91138
Immunoglobulin A Vasculitis
Orchitis, Pustule, Skin rash, Abdominal pain, Anorexia, Hematuria, Arthritis, Gastrointestinal in... ORPHA:761
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Dicarboxylic aciduria, Exe... OMIM:201475
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Keratitis, Myocarditis, Uveitis, Pruritus, Pericarditis, Peau d'orange, Abnormal large intestine ... ORPHA:801
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia, Renal insufficiency OMIM:203300
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Edema, Thin... OMIM:615244
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:614196
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Unusual skin infection, Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, E... ORPHA:449280
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... ORPHA:2686
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Growth delay, Constipation, Aminoaciduria, Dehydration, Glycosuria, Vo... ORPHA:411629
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... OMIM:616730
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney dis... OMIM:219800
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Constipation, Short stature, Polyuria, Vomiting, Feeding difficulties in infancy, Hypertonic dehy... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Constipation, Short stature, Polyuria, Vomiting, Feeding difficulties in infancy, Hypertonic dehy... OMIM:304800
3-Methylglutaconic Aciduria, Type Viib
Tube feeding, Feeding difficulties, Dehydration, Polyhydramnios, Rhizomelia, 3-Methylglutaconic a... OMIM:616271
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Edema, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... ORPHA:209964
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Dehydrati... ORPHA:2260
Renal Agenesis
Anal atresia, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Hepatocellular carcinoma, Gastric varix OMIM:613490
Mungan Syndrome
Abdominal pain, Barrett esophagus, Hypoperistalsis, Renal hypoplasia, Megaduodenum, Intestinal ps... OMIM:611376
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Edema, Gastrointestinal... ORPHA:79319
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Recurrent pneumonia OMIM:214150
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Colitis, Skin rash, Abnormal renal physiology, Maculopapular exanthema,... ORPHA:540
Leiomyomatosis, Diffuse, With Alport Syndrome
Constipation, Abnormal renal physiology, Nephropathy, Vomiting, Hematuria, Thickened glomerular b... OMIM:308940
Pearson Syndrome
Growth delay, Exocrine pancreatic insufficiency, Lacticaciduria, Hepatic failure, Steatorrhea, Po... ORPHA:699
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Superficial dermal perivascular inflammatory infiltrate, Acute k... ORPHA:284426
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Neuraminidase Deficiency
Facial edema, Short stature, Urinary excretion of sialylated oligosaccharides, Hydrops fetalis, I... OMIM:256550
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hepatic failure ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Pruritus OMIM:601847
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Abdominal distention, Intestinal atresia, Recurrent skin infections, Uret... ORPHA:79403
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Methylmalonic Aciduria, Cblb Type
Ketonuria, Dehydration, Methylmalonic aciduria, Vomiting, Feeding difficulties in infancy OMIM:251110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Periodontitis, Pancreatitis, Enterocolitis, Short stature, Hepatocellular carcin... ORPHA:79259
Wolcott-Rallison Syndrome
Chronic kidney disease, Exocrine pancreatic insufficiency, Acute hepatic failure, Short stature, ... ORPHA:1667
Galloway-Mowat Syndrome
Nephrotic syndrome, Hiatus hernia, Short stature, Nephropathy, Proteinuria, Intrauterine growth r... ORPHA:2065
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Constipation, Increased urinary potassium, Renal juxtaglomerular cell hyp... OMIM:601678
Schimke Immuno-Osseous Dysplasia
Intrauterine growth retardation, Abdominal distention, Pancreatitis, Nephrotic range proteinuria,... ORPHA:1830
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intestinal atresia, Inflammation of the large intestine, Dilatation of the renal pelvis, Bronchie... OMIM:619708
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Edema, Abnormal intestine morphology, Secretory diarrhea OMIM:600351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Hydroureter, Fetal megacystis, Generalized edema, Oligohydramnios OMIM:249210
Galloway-Mowat Syndrome 3
High palate, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Short stature, Prote... OMIM:617729
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria... OMIM:613404
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:375
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Short stature, Low-molecular-weight proteinuria, Hypercalc... OMIM:300555
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Feeding difficulties, Short stature, Proteinuria... OMIM:617730
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Short stature ORPHA:1192
Methylmalonic Aciduria, Cbla Type
Ketonuria, Dehydration, Methylmalonic aciduria, Vomiting, Feeding difficulties in infancy OMIM:251100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... OMIM:175500
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Diarrhea, Neonatal death, Jejunal atresia, Growth delay, Microcolon, Volvulus OMIM:609313
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... ORPHA:1876
Bartter Syndrome, Type 3
Increased urinary potassium, Polyuria, Dehydration, Hypocalciuria, Renal potassium wasting, Hyper... OMIM:607364
Malabsorption, Neoplasm of the liver, Episodic abdominal pain, Benign gastrointestinal tract tumo... ORPHA:97282
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Generalized edema, Episodic vom... ORPHA:255249
Lichen Planopilaris
Abnormal intestine morphology, Hyperkeratosis, Hepatitis, Pruritus ORPHA:525
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Hematuria, Proteinuria, Edema, Gastrointestinal hemorrhage OMIM:192315
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft palate, Recurrent skin infections, Recurrent urinary t... ORPHA:33001
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, Pneumonia, Joint swelling, Colitis, Osteomyelitis, Arthritis, Vill... OMIM:619381
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormal gastric mucosa morphology, Abdominal pain ORPHA:234
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Tube feeding, Eczema, Vomiting, Villous atrophy, Chronic diarrhea, Erythroderma, ... OMIM:619510
Fabry Disease
Abdominal pain, Diarrhea, Vomiting, Nausea, Lymphedema, Proteinuria, Renal insufficiency, Delayed... OMIM:301500
Al Amyloidosis
Nephrotic syndrome, Abdominal distention, Macroglossia, Renal interstitial amyloid deposits, Abno... ORPHA:85443
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Feeding difficulties, Dehydration, Hydrops fetalis, Methylmalonic aciduria, Stomatitis... ORPHA:79282
Sweet Syndrome
Oligoarthritis, Pustule, Panniculitis, Acne inversa, Myositis, Inflammation of the large intestin... ORPHA:3243
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Proteinuria, Recurrent otitis media, Postnatal growth retardation, Intrauterine gro... ORPHA:2728
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Cocaine Intoxication
Bloody diarrhea, Colitis, Pulmonary edema, Abdominal pain, Vomiting, Hematuria, Tubulointerstitia... ORPHA:90068
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Dehydration, Myoglobinuria, Nasogastric tube feeding, Vomiting, Nausea, Pro... ORPHA:94093
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Pneumonia, Edema, Gene... OMIM:226300
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Dehydration, Diarrhea, Vomiting, Edema ORPHA:134
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Constipation, Hematuria, Proteinuria, Nephrolithiasis, Joint swelling, Malabsorption, ... ORPHA:534
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Constipation, Increased urinary potassium, Renal juxtaglomerular cell hyp... OMIM:241200
Pauci-Immune Glomerulonephritis
Pancreatitis, Abdominal pain, Decreased glomerular filtration rate, Nephrotic range proteinuria, ... ORPHA:93126
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Short stature, Glycosuria, Proteinuria, Renal insuffici... OMIM:134600
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Skin rash, Xerostomia, Arthritis, In... ORPHA:779
Primary Intestinal Lymphangiectasia
Growth delay, Abdominal pain, Ascites, Chronic diarrhea, Intestinal lymphangiectasia, Generalized... ORPHA:90362
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... ORPHA:398063
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Episodic abdominal pain, Orchitis, Abdominal pain, Peritonit... OMIM:249100
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum, Small bowel diverticula, Colonic diverticula OMIM:223330
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Steatorrhea, Diarrhea, Nonimmune hydrops fetalis, Vomiting, Feeding difficult... OMIM:212065
Bartter Syndrome Type 4
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Increased u... ORPHA:89938
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Decreased glomerular filtration rate, Short stature, Hepatocellula... OMIM:232200
Galactosemia I
Decreased liver function, Increased level of galactitol in urine, Aminoaciduria, Diarrhea, Vomiti... OMIM:230400
Adrenal Hypoplasia, Congenital
Dehydration, Delayed puberty, Renal salt wasting OMIM:300200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Megacystis, Abdominal distention, Peritonitis, Renal cortical hyperechogenicity, Fetal megacystis... OMIM:619351
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... ORPHA:331235
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Dehydration, Diarrhea, Nocturia, Vomiting, Rhinitis ORPHA:230
Aicardi-Goutieres Syndrome 9
Feeding difficulties, Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Chi... OMIM:619487
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Hepatic failure, Episodic vomiting, Focal segmental ... OMIM:607426
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, 3-Methylglutaric aciduria, Anorexia, Dehydration, Diarrhea, Episodic vomiting, Acute p... ORPHA:20
Fanconi Renotubular Syndrome 3
Growth delay, Aminoaciduria, Short stature, Glycosuria, Low-molecular-weight proteinuria, Hyperph... OMIM:615605
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Abdomina... ORPHA:1652
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Reversible ren... ORPHA:90051
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Dehydration, Diarrhea, Polyhydramnios, Growth delay OMIM:214700
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Abdominal pain, Maculopapular ex... ORPHA:39812
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Eczema, Diarrhea, Nephropathy, Inflammation of the large intestine, Pneu... OMIM:600903
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption, Pruritus, Short stature OMIM:211600
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Hematochezia, Renal dysplasia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pl... OMIM:618183
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Abdominal distention, Aminoaciduria, Hepatic failure,... OMIM:277900
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Short stature, Renal hypoplasia, Proteinuria, Renal insufficiency, Mic... ORPHA:1307
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Inflammation of the large intestine, Pruritus, Ulcerative colitis, Granul... ORPHA:562639
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis OMIM:619817
Alternating Hemiplegia Of Childhood
Constipation, Abdominal distention, Anorexia, Dehydration, Diarrhea, Abnormality of the gastroint... ORPHA:2131
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hydrops fetalis, Proteinuria, Ascites ORPHA:834
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Chronic constipat... OMIM:619428
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Feeding difficulties, Protein-losing enteropathy, Macroglossia ORPHA:79320
Martinez-Frias Syndrome
Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypo... OMIM:601346
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Malabsorption, Colitis, Inflammatory abnormality of the skin, Pancreatitis, Abdom... ORPHA:3260
Oculoskeletodental Syndrome
Macroglossia, Short stature, Renal agenesis, Hypercalciuria, Protein-losing enteropathy, Mucopoly... OMIM:618440
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Short stature, G... OMIM:300009
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Atopic dermatitis, Eczema, Recurrent sinusitis, Recur... OMIM:243700
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatic failure, Steatorrhea, Renal cyst, Fat malabsorption, Po... ORPHA:79303
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Abdominal pain, Mesangial hypercellularity, Abnor... ORPHA:91139
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease, Urinary urgency OMIM:619621
Mednik Syndrome
Abnormal intestine morphology, Hyperkeratosis ORPHA:171851
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, Renal hypoplasia, Proteinuria, G... OMIM:614376
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Primary Sclerosing Cholangitis
Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreatitis, Abdominal p... ORPHA:171
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chronic diarrhea, Eryth... OMIM:304790
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Pneumonia, Dysphagia ORPHA:2357
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Mild postnatal growth retardation, Erysipelas, Rectal prolapse, Protein-losing ent... OMIM:235510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Poor suck, Nasogastric tube feeding, Dysphagia, Meckel diverticulum ORPHA:163961
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Facial edema, Abdominal pain, Macroscopic hematuria, Palpebral edema, Foc... ORPHA:567546
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... ORPHA:71272
Fabry Disease
Malabsorption, Nephrotic syndrome, Abdominal pain, Short stature, Anorexia, Abnormal renal tubule... ORPHA:324
Primary Biliary Cholangitis
Abdominal distention, Hepatic failure, Hepatocellular carcinoma, Hepatitis, Pruritus, Ascites, Ce... ORPHA:186
Bloody diarrhea, Enterocolitis, Hematemesis, Skin rash, Abdominal pain, Anorexia, Lymphadenitis, ... ORPHA:707
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Abdominal pain, Chronic otitis med... ORPHA:900
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Glycos... ORPHA:99885
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Renal hypoplasia/aplasia, Hiatus hernia, Gastroesophageal reflux, Feeding difficult... ORPHA:2538
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Hepatoportal Sclerosis
Hepatocellular carcinoma, Gastric varix, Esophageal varix, Pruritus, Gastrointestinal hemorrhage,... ORPHA:64743
Agel Amyloidosis
Xerostomia, Tongue atrophy, Proteinuria, Edema, Pruritus, Blepharochalasis, Keratoconjunctivitis ... ORPHA:85448
Legionnaires Disease
Pancreatitis, Abdominal pain, Anorexia, Diarrhea, Endocarditis, Hematuria, Myocarditis, Hepatitis... ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Decreased liver function, Renal tubular dysfunction, Aminoaciduria, Glycosuria, Rena... OMIM:220110
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Hematuria, Myocarditis, Arthritis, Hepatitis, Uveitis, Rec... ORPHA:728
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Macular edema, Nephropathy, Proteinuria, Pneumonia, Gastrointestinal hemorrhage, Glome... ORPHA:247691
Dyschondrosteosis-Nephritis Syndrome
Short stature, Nephropathy, Hematuria, Proteinuria, Intrauterine growth retardation, Mesomelic sh... ORPHA:1765
Colchicine Poisoning
Dehydration, Diarrhea, Vomiting, Myocarditis, Oliguria, Nausea, Renal insufficiency ORPHA:31824
Marburg Hemorrhagic Fever
Bloody diarrhea, Odynophagia, Pancreatitis, Orchitis, Skin rash, Abdominal pain, Anorexia, Maculo... ORPHA:99826
Harrod Syndrome
High palate, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyloric stenosis, Rena... OMIM:601095
Wiskott-Aldrich Syndrome
Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Eczema, Nephropathy, Chronic otitis... ORPHA:906
Donnai-Barrow Syndrome
Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Diarrhea, Hepatocellular carcinoma, Vomiting, Hepatocellular adenoma, Myo... ORPHA:370
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... OMIM:120330
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Diamond-Blackfan Anemia 7
Intrauterine growth retardation, Cleft palate, Polyhydramnios, Horseshoe kidney, Esophagitis, Rec... OMIM:612562
Irida Syndrome
Abnormal intestine morphology, Hyperkeratosis ORPHA:209981
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Melena, Gastroesophageal reflux, Hematemesis, Constipation, Abdominal pain, Anor... ORPHA:652
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Dehydration, Vomiting, Penoscrotal hypospadias, Renal salt wasting ORPHA:90791
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria, Short stature OMIM:215250
Wiskott-Aldrich Syndrome
Melena, Recurrent otitis media, Hematemesis, Eczema, Diarrhea, Nephropathy, Inflammation of the l... OMIM:301000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Short stature, Diarrhea, Myoglobinuria, Vomiting, Hepatocellular adenoma,... ORPHA:264580
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, A... ORPHA:439232
Galloway-Mowat Syndrome 1
High palate, Nephrotic syndrome, Hiatus hernia, Feeding difficulties, Diffuse mesangial sclerosis... OMIM:251300
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Polyhydramnios, Urethrovesical occlusion, Esoph... OMIM:226730
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Anasarca OMIM:123550
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Gaucher Disease Type 1
Abdominal pain, Anorexia, Osteoarthritis, Hematuria, Pedal edema, Proteinuria, Delayed puberty, G... ORPHA:77259
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum, Urinary incontinence ORPHA:777
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Renal agenesis... OMIM:115470
Cornelia De Lange Syndrome 1
High palate, Intrauterine growth retardation, Malrotation of colon, Gastroesophageal reflux, Hiat... OMIM:122470
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Growth delay ORPHA:71
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Feeding difficulties, Dehydration, Abnormal urine... ORPHA:168558
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Nephropathy, Proteinuria ORPHA:2774
Heme Oxygenase 1 Deficiency
Proteinuria, Growth delay, Nephritis, Hematuria OMIM:614034
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Feeding difficulties, Dehydration, Abnormal urine... ORPHA:289548
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Glycosuria, Vomiting, Renal F... ORPHA:436271
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Anorexia, Inflammation of the large intestine, Arthritis, Abnormal salivary gland ... OMIM:181000
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Fat malabsorption, Hepatic failure OMIM:214950
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Abdominal distention, Cleft palate, Hepatic failure, Micropenis, Polyhydramnios, Lym... OMIM:235255
Immunodeficiency 87 And Autoimmunity
Intrauterine growth retardation, Increased fecal calprotectin level, Cleft palate, Hepatic failur... OMIM:619573
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatic failure, Duplicated collecting system, Esophagitis, Hydronephrosis,... ORPHA:541423
Paternal Uniparental Disomy Of Chromosome 6
High palate, Macroglossia, Dehydration, Postnatal growth retardation, Oligohydramnios, Intrauteri... ORPHA:96191
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Palmoplantar hyperkeratosis ORPHA:2364
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Unusual gastrointe... ORPHA:48435
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Feeding difficulties, Abnormal duodenum morphology,... ORPHA:512
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Glome... ORPHA:99867
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Short stature, Diarrhea, Hepatocellular carcinoma, Vomiting, Hepatocellul... ORPHA:79240
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Diarrhea, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestinal infla... ORPHA:95455
Hereditary Hyperekplexia
Gastroesophageal reflux, Hiatus hernia, Esophagitis ORPHA:3197
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Feeding difficulties, Polyuria, Hyperechogenic kidneys, Proteinuria, Rena... OMIM:613845
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Abdominal distention, Hepatic failure, Micropenis, Abnormal renal morphology, Polyhy... ORPHA:1655
Kawasaki Disease
Cheilitis, Conjunctivitis, Skin rash, Abdominal pain, Diarrhea, Sterile pyuria, Myocarditis, Chol... ORPHA:2331
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Dicarboxylic aciduria,... OMIM:231530
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Growth delay, Gastroesophageal ref... ORPHA:79408
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Lymphatic Filariasis
Predominantly lower limb lymphedema, Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormal... ORPHA:2035
Congenital Disorder Of Glycosylation, Type Id
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Dehydration, Hematuria, Renal insufficiency, Hyperoxaluria, Neph... OMIM:259900
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Chronic kidney disease, Skin rash, Short stature, Juvenile rheumatoid arthritis, Hematuria, Arthr... ORPHA:1855
High palate, Osteomyelitis, Gastroesophageal reflux, Recurrent skin infections, Short stature, Ec... ORPHA:443811
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Multiple renal cys... ORPHA:220460
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Feeding difficulties OMIM:143860
Pyruvate Carboxylase Deficiency
Anorexia, Dehydration, Vomiting, Lacticaciduria, Growth delay ORPHA:3008
Ohdo Syndrome
Feeding difficulties in infancy, Proteinuria, Short stature OMIM:249620
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609