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
Malnutrition, Villous atrophy, Growth delay, Protracted diarrhea, Dehydration, Abnormal intestine... OMIM:251850
Lactase Deficiency, Congenital
Dehydration, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Prolinuria, Diarrhea, Vomiting, Increased level ... OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,... OMIM:617006
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Pruritus, Abdominal pain ORPHA:46487
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Growth delay, Pyoderma, Colitis, Crohn's disease, Perianal abscess, E... OMIM:613148
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm, Pruritus ORPHA:46488
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Growth delay, Ulcerative colitis, Crohn's di... OMIM:266600
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Microvillus Inclusion Disease
Abnormal renal physiology, Pruritus, Abnormality of small intestinal villus morphology, Villous a... ORPHA:2290
Glucose/Galactose Malabsorption
Chronic diarrhea, Hyperactive bowel sounds, Hypertonic dehydration, Glycosuria, Malabsorption, Ab... OMIM:606824
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Growth delay, Aganglionic megacolon,... ORPHA:95427
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
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Coenzyme Q10 Deficiency, Primary, 3
Edema, Proteinuria, Feeding difficulties, Nephrotic syndrome OMIM:614652
Reticular Dysgenesis
Skin rash, Chronic otitis media, Dehydration, Diarrhea, Malabsorption ORPHA:33355
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Palmoplantar keratoderma, Dysphagia, Gastroesophageal ref... ORPHA:2198
Combined Malonic And Methylmalonic Aciduria
Vomiting, Dehydration, Methylmalonic aciduria, Diarrhea OMIM:614265
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Dehydration, Edema, Diarrhea, Abdominal distention ORPHA:103910
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti... OMIM:619350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Growth delay, Crohn's disease, Mucoid diarrhea OMIM:615767
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Ascites, Nausea and vomiting, ... ORPHA:26790
Enteric Anendocrinosis
Vomiting, Dehydration, Malabsorption, Diarrhea ORPHA:83620
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Dehydration, Edema, Diarrhea, Recurrent pneumonia, Vomiting OMIM:616069
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Conjunctivitis, Dehydration, Hepa... ORPHA:33110
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Malabsorption, Hyperlysinuria OMIM:222690
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Dehydration OMIM:251120
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula, Vomiting, Episodi... OMIM:243180
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Colitis, Hepatitis, Recurrent skin infec... OMIM:300635
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Aminoaciduria, Nephropathy, Dehydration, Delayed puberty, Short stature, Vomiting, Renal insuffic... ORPHA:213
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Netherton Syndrome
Skin rash, Erythroderma, Aminoaciduria, Dehydration, Ectopic kidney, Hydronephrosis, Short statur... ORPHA:634
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Multiple Intestinal Atresia
Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent sinusitis, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema, Proteinuria OMIM:189800
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration, Dicarboxylic aciduria ORPHA:79159
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Maternally-Inherited Diabetes And Deafness
Constipation, Glomerulopathy, Renal insufficiency, Malabsorption, Proteinuria ORPHA:225
Nephrotic Syndrome, Type 1
Growth delay, Glomerular sclerosis, Gastroesophageal reflux, Pyloric stenosis, Renal tubular atro... OMIM:256300
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Immunodeficiency 31C
Villous atrophy, Growth delay, Delayed puberty, Diarrhea, Short stature, Chronic mucocutaneous ca... OMIM:614162
Combined Malonic And Methylmalonic Acidemia
Nasogastric tube feeding, Dehydration, Methylmalonic aciduria, Dicarboxylic aciduria, Vomiting, I... ORPHA:289504
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Generalized aminoaciduria, Diarrhea, Abnormal intestine morpholo... OMIM:606528
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Synovitis, Abnormal glomerular mesangium morphology, Glomerulonep... ORPHA:567544
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Congenital Tufting Enteropathy
Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Punc... ORPHA:92050
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the urinary system, Dehydration, Intrauterine growth retardation, Ab... ORPHA:99886
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration, Decreased liver function, Myoglobinuria, Vomiting OMIM:602199
Alpha-Heavy Chain Disease
Abdominal pain, Growth delay, Ascites, Abnormality of the small intestine, Malabsorption ORPHA:100025
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Aa Amyloidosis
Malnutrition, Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abdominal pain, Nausea, Ch... ORPHA:85445
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Short stature, Nephro... OMIM:618999
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Diarrhea, Hematochezia OMIM:191390
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Dehydration, Diarrhea OMIM:610370
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Intestinal perforation, Acute kidney injury, Intussusception, Anuria,... ORPHA:90038
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Edema, Nephrotic syndrome, Proteinuria OMIM:105200
Gastrointestinal obstruction, Abdominal pain, Dysphagia, Growth delay, Abdominal colic, Abnormal ... ORPHA:1549
Pyloric Atresia
Polyhydramnios, Congenital pyloric atresia OMIM:265950
Peritonitis, Acute kidney injury, Pneumonia, Anorexia, Dehydration, Myocarditis, Vomiting, Bloody... ORPHA:810
Immunodeficiency 76
Recurrent pneumonia, Growth delay, Chronic diarrhea, Colitis OMIM:619164
Netherton Syndrome
Allergic rhinitis, Erythroderma, Villous atrophy, Parakeratosis, Hypernatremic dehydration, Abnor... OMIM:256500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Esophageal varix, Dehydration, Abs... OMIM:263200
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Arthritis, Myositis, Crohn's disease, Acne, Proteinuria ORPHA:69126
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Achalasia, Colitis, Celiac disease OMIM:618969
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dysphagia, Dehydration OMIM:618958
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Lamellar Ichthyosis
Pruritus, Hyperkeratosis, Erythroderma, Chronic otitis media, Dehydration, Short stature, Renal i... ORPHA:313
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Nephrotic syndrome, R... OMIM:254900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Arthritis, Acne, Sterile arthritis OMIM:604416
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Distal renal tubular acidosis, Hypercalciuria, Dehydration, Vomiting, Nephrocalcinosis OMIM:602722
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Protein-losing enteropathy OMIM:619063
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Colitis, Protracted diarrhe... OMIM:209920
Immunodeficiency 17
Eczema, Abnormal intestine morphology, Recurrent otitis media, Recurrent gastroenteritis OMIM:615607
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Pruritus, Poor appetite, Palmoplantar pustulosis,... ORPHA:324964
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Episodic vomiting, Short stature, Feeding difficulties in infancy, En... OMIM:616050
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Feingold Syndrome 2
Short stature, Intestinal atresia, Postnatal growth retardation OMIM:614326
Eosinophilic Gastroenteritis
Atopic dermatitis, Allergic rhinitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the... ORPHA:2070
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Postnatal growth retardation, Delayed puberty, Short stature, Eczema, Celiac disease OMIM:618985
Acute kidney injury, Abdominal pain, Helicobacter pylori infection, Chronic kidney disease, Intra... ORPHA:275555
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Diarrhea, Intrauterine growth retardation OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Atopic de... ORPHA:411696
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Chronic Hiccup
Dehydration, Malnutrition ORPHA:396
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, S... ORPHA:1201
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Esophageal stenosis, Postnatal growth retardation, Colitis OMIM:615190
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Yellow Fever
Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Nephropathy, Anorexia, Oligur... ORPHA:99829
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Ede... OMIM:614131
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Recurrent pn... OMIM:619281
Familial Cold Urticaria
Pruritus, Abdominal pain, Conjunctivitis, Dehydration, Nausea and vomiting, Arthritis ORPHA:47045
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Pleural effusion, Ulcerative colitis, Acute pancreatitis, Per... OMIM:618935
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteomyelitis, Abdominal pain, Palmoplan... ORPHA:793
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hyperkeratosis, Unilateral renal agenesis, Short stature, Renal insu... ORPHA:281090
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Steatorrhea, Growth delay OMIM:613291
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Dehydration, Vomiting, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Inflammation of the large intestine, Hyperkeratosis, Proximal tubulopathy, Growth ... OMIM:614576
Galloway-Mowat Syndrome 2, X-Linked
Feeding difficulties, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, I... OMIM:301006
Immunodeficiency 58
Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Recurrent pneu... OMIM:618131
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Majeed Syndrome
Pustule, Inflammatory abnormality of the skin, Synovitis, Glomerulopathy, Abnormal inflammatory r... ORPHA:77297
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Dehydration ORPHA:28
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Propionic Acidemia
Constipation, Hyperglycinuria, Dehydration, Short stature, Pancreatitis, Vomiting, Eczema, Feedin... OMIM:606054
Ebola Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Diarrhea, Nausea a... ORPHA:319218
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Renal salt wasting, Dehydration, Vomiting, Feeding difficulties in infancy OMIM:203400
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Pericardial effusion, Discoid lupus rash, Diarrhea, Vomiting, Renal insuffi... ORPHA:93552
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Villous atrophy, Diarrhea, Protein-losing enteropathy OMIM:615863
Visceral Myopathy 1
Polyhydramnios, Megaduodenum, Megacystis, Malnutrition, Abdominal pain, Dysphagia, Constipation, ... OMIM:155310
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis OMIM:613217
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Villous atrophy, Growth delay, ... OMIM:614700
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr... OMIM:615573
Central Diabetes Insipidus
Nocturia, Anorexia, Dehydration, Diarrhea, Nausea and vomiting ORPHA:178029
Chylous Ascites
Lymphedema, Abnormal intestine morphology, Ascites, Pancreatitis ORPHA:1160
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Cleft palate, Nephrotic syndrome, Edem... OMIM:618348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Feeding difficulties, Abdominal pain, Anorexia, Dehydration, Pancreatitis, Nausea and vomiting, R... ORPHA:79312
Early-Onset Familial Hypoaldosteronism
Feeding difficulties, Postnatal growth retardation, Renal sodium wasting, Dehydration, Vomiting ORPHA:556030
Heme Oxygenase 1 Deficiency
Growth delay, Hematuria, Proteinuria OMIM:614034
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Vesicoureteral reflux, Chronic kidney disease, Chronic constipation, Renal... ORPHA:261222
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... OMIM:300048
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Gastrointestinal infa... ORPHA:342
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Growth delay, Delayed puberty, Abdominal distention, Short stature, Abn... ORPHA:369
Immunodeficiency 60
Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Systemic Sclerosis
Pruritus, Acute kidney injury, Joint swelling, Pericarditis, Abnormal esophagus morphology, Chron... ORPHA:90291
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Pr... OMIM:600995
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Edema, Abnorm... ORPHA:263665
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Reactive Arthritis
Inflammation of the large intestine, Pustule, Joint swelling, Pericarditis, Abdominal pain, Hyper... ORPHA:29207
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Dehydration, Diarrhea, Vomiting, Feeding difficulties in infancy OMIM:264350
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Hyperactive bowel sounds, Dehydration, Abdominal distention, Diarrhea, V... ORPHA:35710
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Isovaleric Acidemia
Hyperglycinuria, Vomiting, Dehydration OMIM:243500
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Abdominal pain, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Dysuria, Skin rash, Pruritus, Inflammatory abnormality of the skin, Hematuria, Urinary hesitancy,... ORPHA:556
Hypercholanemia, Familial 1
Pruritus, Fat malabsorption, Steatorrhea OMIM:607748
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
Fibronectin Glomerulopathy
Pedal edema, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nep... ORPHA:84090
Cednik Syndrome
Proteinuria, Short stature, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome ORPHA:66631
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Protein-losing enteropathy, Facial edema, Edema OMIM:618154
Gilbert Syndrome
Dehydration OMIM:143500
Wild Type Attr Amyloidosis
Pleural effusion, Pedal edema, Chronic diarrhea, Nephropathy, Bowel incontinence, Pulmonary edema... ORPHA:330001
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Abdominal pain, Growth dela... ORPHA:567548
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney disease... OMIM:251000
Lysosomal Acid Lipase Deficiency
Pruritus, Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties... ORPHA:275761
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Hematuria, Abdominal pain, Pleural effusion, Pericardial effusion, Uveitis, ... ORPHA:36412
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis, Renal insufficiency OMIM:203300
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Growth delay, Abnormality of the urinary system, Esophageal strict... ORPHA:79409
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Endocarditis, Increased inflammatory response, Abdominal pain, Dysphagia, M... ORPHA:183
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Duplicated collecting system, Pneumonia, Abnorma... ORPHA:79404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Hematuria, Esophageal stenosis, Nasogast... ORPHA:1018
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Wilson Disease
Hyperphosphaturia, Dysphagia, Hepatocellular carcinoma, Aminoaciduria, Esophageal varix, Glycosur... OMIM:277900
Cystic Fibrosis
Recurrent pneumonia, Exocrine pancreatic insufficiency, Bronchiectasis, Steatorrhea, Hypercalciur... OMIM:219700
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Diarrhea, Hematochezia OMIM:277175
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Dehydration, Pancreatitis ORPHA:27
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration, Feeding difficulties OMIM:143860
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Sacroiliac arthritis, Anterior uveitis, ... OMIM:106300
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Feeding difficulties, Palpebral edema, Gastroesophageal reflux, Postnatal growth ret... ORPHA:79350
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Feeding difficulties, Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Pyloric s... OMIM:617219
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Feeding difficulties, Proximal tubulop... ORPHA:411634
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Proportionate short stature, Dehydration, Vomiting, Feeding difficult... ORPHA:171876
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera... ORPHA:555905
Galloway-Mowat Syndrome 6
High palate, Nephrotic syndrome, Short stature, Proteinuria OMIM:618347
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hyposthenuria, Nausea and vomiting, Hydroureter, Feeding difficulties, Growth del... ORPHA:223
Focal Segmental Glomerulosclerosis 1
Edema, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Palmoplantar keratoderma, Hyperkeratosis, Dysph... ORPHA:2908
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Hyperkeratosis, Chronic diarrhea, Colitis, Urethral stricture, Recurrent pneumonia OMIM:301220
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Renal salt wasting, Growth delay OMIM:610600
Serkal Syndrome
Malrotation of small bowel, Hypoplasia of the bladder, Oligohydramnios, Abnormal penis morphology... ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Protein-losing enteropathy, Vomiting, Decreased liver function, Diarrhea, Ascite... OMIM:608104
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Dehydration, Diarrhea, Vomiting OMIM:560000
Cholestasis, Progressive Familial Intrahepatic, 1
Pruritus, Fat malabsorption, Diarrhea, Severe short stature OMIM:211600
Peritonitis, Thyroiditis, Pneumonia, Anorexia, Dehydration, Myocarditis, Sinusitis, Vomiting, Myo... ORPHA:2552
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Chronic atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Di... OMIM:616100
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Hydroureter, Abnormality of the bladder, Abnormality of the upper urinary tract, ... ORPHA:2547
Donnai-Barrow Syndrome
Intestinal malrotation, Proteinuria ORPHA:2143
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Erythroderma, Villous atrophy, Blepharitis, Bloody diarrhea OMIM:614328
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Di... OMIM:610725
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Pneumonia, Diarrhea, Myocarditis, Vomiting, Decreased urine output, Bloody d... ORPHA:544482
Pruritus, Acute kidney injury, Pericarditis, Chronic kidney disease, Abnormal large intestine mor... ORPHA:801
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Renovascular hypertension, Esophageal carcinoma, Villous atrophy, Growth delay, T... ORPHA:391487
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Periorbital edema, Ren... ORPHA:73263
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Abdominal pain, Diarrhea, Renal insufficiency, Proteinuria ORPHA:54057
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Viral hepat... ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephropathy, Renal tubular acidosis, Dehydration, Nephrocalcinosis OMIM:208085
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Abnormality of renal excretion, Acute kidney injury, Achlorhydria, Abdominal cramps, Abdominal pa... ORPHA:173
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Edema, Nephrotic syndrome, Prote... OMIM:614196
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Abdominal colic, Recu... ORPHA:976
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Edema, Nephrotic syndrome, Diffuse mes... OMIM:615244
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Abnormal renal morphology, Endocarditis, Pericarditis, Unusual skin infection, Pneumonia, Pleural... ORPHA:449280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Intestinal ma... ORPHA:2241
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection... ORPHA:2686
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Cleft palate, Nephrotic syndrome, Stag... OMIM:616730
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:617731
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Dicarboxylic aciduria, Exe... OMIM:201475
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Pleural effusion, Pleural empyema, Prot... ORPHA:67
Nephrotic range proteinuria, Constipation, Gastroesophageal reflux, Short stature ORPHA:300536
Mungan Syndrome
Megaduodenum, Renal hypoplasia, Intestinal pseudo-obstruction, Hypoperistalsis, Vesicoureteral re... OMIM:611376
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Constipation, Polyuria, Hypertonic dehydration, Short stature, Vomiting, Feeding diff... OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Constipation, Polyuria, Hypertonic dehydration, Short stature, Vomiting, Feeding diff... OMIM:304800
Immunoglobulin A Vasculitis
Skin rash, Pustule, Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infa... ORPHA:761
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Growth delay, Constipation, Aminoaciduria, G... ORPHA:411629
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Dysphagia, Constipation, Nephropathy, ... OMIM:308940
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Oligohydramnios, Bilateral renal agenesis... ORPHA:411709
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Diarrhea, Hepatic failure, Vomiting OMIM:602579
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Aminoaciduria, Glycosuria, Short stature, Proteinuria OMIM:615605
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Generalized aminoaciduria, Dysphagia, Growth delay, Polyuria, ... OMIM:219800
Junctional Epidermolysis Bullosa With Pyloric Atresia
Polyhydramnios, Hematuria, Nausea and vomiting, Urinary bladder inflammation, Renal dysplasia, Co... ORPHA:79403
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hepatic failure ORPHA:664
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Methylmalonic Aciduria, Cblb Type
Feeding difficulties in infancy, Dehydration, Methylmalonic aciduria, Vomiting, Ketonuria OMIM:251110
Pearson Syndrome
Median cleft lip and palate, Lacticaciduria, Hydrops fetalis, Exocrine pancreatic insufficiency, ... ORPHA:699
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Skin rash, Erythroderma, Maculopapular exanthema, Colitis, Decreased l... ORPHA:540
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Short s... OMIM:256550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Edema, Diarrhea, Vomiting, Abnormal intestine morphology, Secretory diarrhea OMIM:600351
Cholestasis, Progressive Familial Intrahepatic, 2
Pruritus, Hepatocellular carcinoma, Diarrhea, Short stature, Fat malabsorption OMIM:601847
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Growth delay, Nephropathy, Micro... ORPHA:1830
Galloway-Mowat Syndrome
Hiatus hernia, Nephropathy, Short stature, Nephrotic syndrome, Intrauterine growth retardation, P... ORPHA:2065
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Severe short stature, Proteinuria OMIM:610965
Methylmalonic Aciduria, Cbla Type
Feeding difficulties in infancy, Dehydration, Methylmalonic aciduria, Vomiting, Ketonuria OMIM:251100
Galloway-Mowat Syndrome 3
Hiatus hernia, Oligohydramnios, Glomerular sclerosis, Edema, Stage 5 chronic kidney disease, Neph... OMIM:617729
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ... OMIM:175500
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomer... OMIM:601678
Poor appetite, Neoplasm of the liver, Anorexia, Abnormal gastrointestinal motility, Dehydration, ... ORPHA:97282
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Tubulointerstitial fibrosis, Enlarged kidney, Protuberant ab... ORPHA:79259
Galloway-Mowat Syndrome 4
Feeding difficulties, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, S... OMIM:617730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Glomerulonephritis, Stage 5 chronic kidney disease, Short stature, ... OMIM:614376
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Predominantly lower limb lymphedema, Conjunct... ORPHA:33001
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Nephropathy, Nephrotic syndrome ORPHA:1192
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Lichen Planopilaris
Hyperkeratosis, Pruritus, Abnormal intestine morphology, Hepatitis ORPHA:525
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Growth delay, Acute hepatic failure, Dehydration, Chronic kidn... ORPHA:1667
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Growth delay, Steatorrhea, Colitis, Keratoconj... ORPHA:309031
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Oligohydramnios, Hydroureter, Intestinal malrotation, Fetal megacystis, Generalized edema OMIM:249210
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the gastric mucosa, Abdominal pain ORPHA:234
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Postnatal growth retardation, Multiple bladder diverticula, Cleft palate,... ORPHA:2728
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Glossitis, Feeding difficulties, Growth delay, Stomatitis, Glomerulopathy, Hemol... ORPHA:79282
Galactosemia I
Albuminuria, Aminoaciduria, Decreased liver function, Increased level of galactitol in urine, Gal... OMIM:230400
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Congenital Bile Acid Synthesis Defect Type 4
Fat malabsorption ORPHA:79095
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers... ORPHA:3243
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Short stature, Renal insufficiency, Renal tubular dysf... OMIM:134600
Reynolds Syndrome
Pruritus, Skin rash, Dysphagia, Gastroesophageal reflux, Xerostomia, Keratoconjunctivitis sicca, ... ORPHA:779
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Dehydration, Diarrhea, Feeding difficulties OMIM:177735
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Abdominal pain, Nephrotic range proteinuria, Abnormali... ORPHA:93126
Leigh Syndrome With Nephrotic Syndrome
Oligohydramnios, Feeding difficulties, Gastrostomy tube feeding in infancy, Renal tubular acidosi... ORPHA:255249
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Dysphagi... ORPHA:63
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Bladder diverticulum OMIM:223330
Beta-Ketothiolase Deficiency
Anorexia, Dehydration, Edema, Diarrhea, Vomiting, Ketonuria ORPHA:134
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dysphagia, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exer... ORPHA:368
Refractory Celiac Disease
Malnutrition, Jejunitis, Abdominal pain, Villous atrophy, Chronic diarrhea, Protein-losing entero... ORPHA:398063
Neuroleptic Malignant Syndrome
Nasogastric tube feeding, Acute kidney injury, Dysphagia, Nausea, Urinary incontinence, Dehydrati... ORPHA:94093
Cocaine Intoxication
Intestinal perforation, Hematuria, Acute kidney injury, Abdominal pain, Gastrointestinal infarcti... ORPHA:90068
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Joint swelling, Narrow palate, Hypercalciuria, Dehydration, Delayed puberty, Renal ins... ORPHA:534
Al Amyloidosis
Macroglossia, Albuminuria, Gastrointestinal hemorrhage, Peripheral edema, Abnormality of the gast... ORPHA:85443
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Pneumonia, Nephropathy, Diarrhea, Sinusitis, Eczema, Otitis ... OMIM:600903
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomer... OMIM:241200
Fabry Disease
Tenesmus, Proteinuria, Lymphedema, Abdominal pain, Urinary mulberry cells, Nausea, Delayed pubert... OMIM:301500
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Growth delay, Small intestinal polyposis... ORPHA:329971
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Nocturia, Dehydration, Diarrhea, Rhinitis, Vomiting ORPHA:230
Adrenal Hypoplasia, Congenital
Dehydration, Renal salt wasting, Delayed puberty OMIM:300200
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Recurrent gastroenteritis, Abdominal pain, Nausea... ORPHA:39812
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Growth delay, Pneumonia, Edema, Ascites, Diarrhea, Vomiting, Generalized edema, A... OMIM:226300
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Chronic sinusitis, Recurre... ORPHA:331235
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Growth delay, Dehydration, Diarrhea, Abdominal distention OMIM:214700
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, High palate, Microglossia, Short stature, Cleft palate, Renal insufficiency, Pr... ORPHA:1307
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Anorexia, Acute pancreatitis, Reye syndrome-like episodes, Dehydration... ORPHA:20
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Familial Mediterranean Fever
Peritonitis, Pericarditis, Renal amyloidosis, Abdominal pain, Pleural effusion, Orchitis, Erysipe... OMIM:249100
Sepsis In Premature Infants
Reversible renal failure, Oliguria, Functional abnormality of the gastrointestinal tract, Decreas... ORPHA:90051
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Decreased liver function, Renal Fanconi syndrome, H... OMIM:220110
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hepatocellular carcinom... OMIM:232200
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Intrauterine gr... OMIM:601346
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Oligohydramnios, Anuri... OMIM:619351
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Polyuria, Protein... OMIM:618183
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Pruritus, Interface hepatitis, Granulomatous cholangitis, Sc... ORPHA:562639
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Narrow palate, Lymphedema, Pleural effusion, Pericardial effusion, Protein-losi... OMIM:235510
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal stomach morphology, Meckel diverticulum, Morphological abnormality of th... ORPHA:141127
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Erythroderma, Villous atrophy, Chronic diarrhea, Glomerulonephritis, Hepatitis, Ileus, Eczema, Ar... OMIM:304790
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Gastrointestinal hemorrhage, Abdominal pain, Pleural effusion, ... ORPHA:340
Oculoskeletodental Syndrome
Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, Hypercalciuria, Short stature, R... OMIM:618440
Alternating Hemiplegia Of Childhood
Dysphagia, Abnormality of the gastrointestinal tract, Constipation, Oral-pharyngeal dysphagia, An... ORPHA:2131
Idiopathic Hypereosinophilic Syndrome
Pruritus, Joint swelling, Abdominal pain, Pleural effusion, Dysphagia, Erythroderma, Chronic diar... ORPHA:3260
Pancreatic Colipase Deficiency
Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Feeding difficulties, Dysphagia, Poor suck ORPHA:163961
Primary Sclerosing Cholangitis
Pruritus, Abdominal pain, Pleural effusion, Hepatocellular carcinoma, Thyroiditis, Ulcerative col... ORPHA:171
Syndromic Diarrhea
Renal hypoplasia, Villous atrophy, Colitis, Polycystic kidney dysplasia, Gastritis, Short stature... ORPHA:84064
Infantile Bartter Syndrome With Sensorineural Deafness
Polyhydramnios, Impaired renal concentrating ability, Nasogastric tube feeding, Acute kidney inju... ORPHA:89938
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Harrod Syndrome
Malrotation of small bowel, High palate, Pyloric stenosis, Aganglionic megacolon, Hypospadias, Hi... OMIM:601095
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increased inflammat... ORPHA:900
Agel Amyloidosis
Pruritus, Tongue atrophy, Xerostomia, Keratoconjunctivitis sicca, Edema, Stage 5 chronic kidney d... ORPHA:85448
Fabry Disease
Abnormal renal tubule morphology, Hematuria, Abdominal pain, Lymphedema, Hyperkeratosis, Achalasi... ORPHA:324
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis... ORPHA:707
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Hematuria, Pericarditis, Scleritis, Uveitis, Glomerulopathy, Art... ORPHA:728
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:171851
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Primary Biliary Cholangitis
Gastrointestinal inflammation, Pruritus, Hepatocellular carcinoma, Hepatitis, Ascites, Hepatic fa... ORPHA:186
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Abdominal pain, Anorexia, Hepatitis, Diarrhea, Encephaliti... ORPHA:549
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Dehydration, Abnormality of the upper urinary tract,... ORPHA:99885
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Dysphagia, Abnormal esophagus morphology, Pneumonia ORPHA:2357
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Feedin... ORPHA:2538
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Gastrointestinal hemorrhage, Glomerular sclerosis, Pneumonia, Nephropathy, Macular ede... ORPHA:247691
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Protuberant abdomen, Hepatocellular carcinom... OMIM:232220
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Mesomelic short stature, Nephropathy, Short stature, Intrauterine growth retardation, ... ORPHA:1765
Colchicine Poisoning
Nausea, Oliguria, Dehydration, Diarrhea, Myocarditis, Vomiting, Renal insufficiency ORPHA:31824
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Edema, Stage 5 chronic kidney disease, Nephrotic syndrome, Di... OMIM:617575
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatocellular carcinoma, Growth delay, Esophageal varix, Renal tubular a... ORPHA:370
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Zollinger-Ellison syndrome, Hematemesis, Abdominal pain, Constipation, Gast... ORPHA:652
Donnai-Barrow Syndrome
Intestinal malrotation, Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria OMIM:222448
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation ORPHA:1759
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Short stature, Nephrocalcinosis, Proteinuria OMIM:616026
Chylomicron Retention Disease
Growth delay, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Abdominal distention ORPHA:71
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Anasarca, Albuminuria, Focal segmental glomerulosclerosis, Palpebral edema, Pleural effusion, Abd... ORPHA:567546
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Penoscrotal hypospadias, Dehydration, Vomiting, Hypospadias ORPHA:90791
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Growth delay, Nausea, Esophageal varix, Renal tubular acidosis, Delayed p... ORPHA:264580
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney dis... ORPHA:488627
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Chronic diarrhea, Recur... OMIM:301000
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Severe short stature ORPHA:2617
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Protein-losing enteropathy, Hydronephrosis, Ascites, Hepatic failure,... OMIM:235255
Esophageal Atresia
Polyhydramnios, Esophagitis, Gastrointestinal dysmotility, Morphological abnormality of the gastr... ORPHA:1199
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Short stature, Nephrotic syndrome OMIM:215250
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:209981
X-Linked Non-Syndromic Intellectual Disability
Urinary incontinence, Meckel diverticulum, Pyloric stenosis ORPHA:777
Diamond-Blackfan Anemia 7
Polyhydramnios, Esophagitis, Horseshoe kidney, Growth delay, Recurrent otitis media, Vesicoureter... OMIM:612562
Sandifer Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Galloway-Mowat Syndrome 1
Hiatus hernia, Oligohydramnios, Focal segmental glomerulosclerosis, Feeding difficulties, High pa... OMIM:251300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Nephropathy, Proteinuria ORPHA:2774
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia ORPHA:1198
Cornelia De Lange Syndrome 1
Hiatus hernia, Abnormal renal morphology, Renal hypoplasia, High palate, Gastroesophageal reflux,... OMIM:122470
Gaucher Disease Type 1
Hematuria, Abdominal pain, Pericardial effusion, Pedal edema, Growth delay, Anorexia, Delayed pub... ORPHA:77259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Decreased liver function, Renal Fanconi syndrome, V... ORPHA:436271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Abnormal renal morphology, Postnatal growth retardation, Protein-losing enteropat... ORPHA:1655
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Oligohydramnios, Feeding difficulties, Growth delay, Duplicated collecting system, H... ORPHA:541423
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Feeding difficulties, Hypernatriuria, Abnormal ur... ORPHA:168558
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Fat malabsorption, Giant cell hepatitis OMIM:214950
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Feeding difficulties, Hypernatriuria, Abnormal ur... ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Oligohydramnios, Postnatal growth retardation, Dehydration, Intrauterine growth ret... ORPHA:96191
Aapoaiv Amyloidosis
Renal amyloidosis, Abnormality of the gastrointestinal tract, Glomerular sclerosis, Chronic kidne... ORPHA:439232
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Hematochezia, Chronic diarrhea, Chronic otitis ... ORPHA:906
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Palmoplantar keratosis with erythema and scale, Myoglobinuria ORPHA:2364
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Free Sialic Acid Storage Disease
Hydrops fetalis, Proteinuria, Ascites, Nephrotic syndrome ORPHA:834
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Ankyloglossia, Malnutrition... ORPHA:79408
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Bronchiectasis, Pleural effusion, Pericardial... OMIM:181000
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Feeding difficulties, Intussusception,... ORPHA:512
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Multiple renal cysts, Adenocarcinoma of the colon, Colorectal polyposis, Adenom... ORPHA:220460
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Dicarboxylic aciduria, Myoglobinuria, Fulminant hepatic failure, Feeding difficulti... OMIM:231530
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Anasarca, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Gastrointestinal atresia, Intestinal malrotation, Hashimoto thyroiditis, Jejunoil... ORPHA:436252
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Hematuria, Acute kidney injury, Pneumonia, Anorexia, Xerostomia, Diarrhea, Anterior uv... ORPHA:95455
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Feeding difficulties, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidney... OMIM:613845
Hereditary Hyperekplexia
Hiatus hernia, Gastroesophageal reflux, Esophagitis ORPHA:3197
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Protuberant abdomen, Disproportionate short-trunk short statu... OMIM:242900
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Naus... ORPHA:276621
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Vomiting, Diarrhea, Bifid uvula, High palate OMIM:601110
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Polyhydramnios, Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia OMIM:226730
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
Pyruvate Carboxylase Deficiency
Lacticaciduria, Growth delay, Anorexia, Dehydration, Vomiting ORPHA:3008
Esophagitis, Recurrent pneumonia, Cutaneous abscess, Atopic dermatitis, Allergic rhinitis, Bronch... ORPHA:443811
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Diarrhea, Intr... OMIM:615710
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hepatocellular carcinoma, De... OMIM:232240
Focal segmental glomerulosclerosis, Proximal tubulopathy, Constipation, Nephropathy, Intestinal p... ORPHA:550
Kawasaki Disease
Skin rash, Glossitis, Pericarditis, Abdominal pain, Cholecystitis, Cheilitis, Arthritis, Conjunct... ORPHA:2331
Fat malabsorption OMIM:200100
Skin rash, Hematuria, Pneumonia, Arthritis, Disproportionate short-trunk short stature, Juvenile ... ORPHA:1855
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, High palate, Renal tubular dysfunction, Pro... OMIM:210550
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Diarrhea, Renal Fanconi syndrome, Vomiting, Proteinuria ORPHA:263455
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Thyroiditis, Hepatocellular carcinoma, Panniculitis, Uveitis, Colitis, Glomerulo... ORPHA:3261
Chronic Granulomatous Disease
Otitis media, Inflammatory abnormality of the eye, Sinusitis, Eczema, Tracheoesophageal fistula, ... ORPHA:379
Ohdo Syndrome
Feeding difficulties in infancy, Short stature, Proteinuria OMIM:249620
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Oligohydramnios, Recurrent urinary tract infections, ... ORPHA:93110
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Duodenal... OMIM:174900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Lymphatic Filariasis
Epididymitis, Urethral obstruction, Hematuria, Lymphedema, Hyperkeratosis, Lymphadenitis, Orchiti... ORPHA:2035
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Horseshoe kidney, Lymphedema,... ORPHA:99226
Nail-Patella Syndrome
Nephritis, Morphological abnormality of the gastrointestinal tract, Hematuria, Constipation, Thic... ORPHA:2614
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Oligohydramnios, Proteinuria OMIM:191830
Hellp Syndrome
Acute kidney injury, Abdominal pain, Pleural effusion, Nausea, Hemoglobinuria, Pulmonary edema, V... ORPHA:244242
Radiation Proctitis
Tenesmus, Arteritis, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gas... ORPHA:70475
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Acute kidney injury, Oligohydramnios, Enlarged kidney, Gastrointestinal hemo... ORPHA:731
Juvenile Polyposis Syndrome
Anasarca, Hamartomatous stomach polyps, Diarrhea, Juvenile gastrointestinal polyposis, Intestinal... ORPHA:2929
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Focal segmental glomerulosclerosis, Enlarged kidney, Renal tub... OMIM:617303
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Steatorrhea, Diarrhea, Hepatic failure, Fat malabsorption OMIM:607765
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Malnutrition, Postnatal growth retardation, Diarrhea, Short stature, Fat mala... ORPHA:96180
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Feeding difficulties in infancy, Cystathioninuria, Nephropathy, Hemolytic-uremic syndr... OMIM:277400
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed puberty, Macroscopic hematuria... ORPHA:251004
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Intrauterine growth retardation, Duode... ORPHA:2470
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Proximal tubulopathy, Renal cyst, Nonimmune hydrops fetalis, Diarrhea, Neph... OMIM:212065
Epidermolysis Bullosa Simplex With Pyloric Atresia
Polyhydramnios, Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Congeni... ORPHA:158684
Paroxysmal Cold Hemoglobinuria
Diarrhea, Abnormal urinary color, Hemoglobinuria, Nausea and vomiting ORPHA:90035
Protein-losing enteropathy ORPHA:95428
Congenital Disorder Of Glycosylation, Type Iif