Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fermitin family member 1
Synonyms:
Kindlin-1,  5830467P10Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
phenotypes
Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine... OMIM:251850
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Epidermolysis Bullosa Acquisita
Pruritus, Inflammation of the large intestine, Abdominal pain ORPHA:46487
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Folliculitis, Colitis, Pyoderma, Cro... OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ... OMIM:266600
Linear Iga Dermatosis
Pruritus, Renal neoplasm, Inflammation of the large intestine ORPHA:46488
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... 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
Microvillus Inclusion Disease
Villous atrophy, Pruritus, Abdominal distention, Diarrhea, Dehydration, Nephrocalcinosis, Abnorma... ORPHA:2290
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Dehydration, Chronic otitis media ORPHA:33355
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Methylmalonic aciduria, Dehydration OMIM:614265
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency, Common Variable, 11
Growth delay, Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Malabsorption, Argininuria, Hyperlysinuria OMIM:222690
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Malabsorption, Dehydration, Renal tubular dysfun... ORPHA:213
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Multiple Intestinal Atresia
Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis ORPHA:2300
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... OMIM:617638
Netherton Syndrome
Skin rash, Eczema, Short stature, Malabsorption, Ectopic kidney, Dehydration, Aminoaciduria, Eryt... ORPHA:634
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Dehydration OMIM:251120
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria, Edema OMIM:189800
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Vomiting, Dehydration ORPHA:79159
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Constipation ORPHA:225
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... OMIM:619377
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption, Growth delay, Ascites ORPHA:100025
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration, Vomiting, Intermittent diarrhea, Naso... ORPHA:289504
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... OMIM:256300
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Vomiting, Decreased liver function, Neonatal death, Myoglobinuria OMIM:602199
Immunodeficiency 76
Growth delay, Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Pyloric Atresia
Polyhydramnios, Congenital pyloric atresia OMIM:265950
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Bic... ORPHA:47159
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Chron... OMIM:619858
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Dehydration, Macroglossia, Abnormality of the urinary system, Intraute... ORPHA:99886
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Secretory diarrhea, Dehydration, Vomiting OMIM:616069
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic ... ORPHA:90038
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutri... ORPHA:85445
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting, Dehydration OMIM:610370
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... OMIM:606528
Lamellar Ichthyosis
Renal insufficiency, Short stature, Pruritus, Dehydration, Hyperkeratosis, Erythroderma, Chronic ... ORPHA:313
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration, Conjunc... ORPHA:810
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Membranous nephropathy, Nephro... OMIM:618999
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Crohn's disease ORPHA:69126
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Amyloidosis, Familial Visceral
Skin rash, Proteinuria, Edema, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Parakeratosis, Recurrent skin infections, Eczema, All... OMIM:256500
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Vomiting, Distal renal tubular acidosis OMIM:602722
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dehydration, Dysphagia OMIM:618958
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, E... OMIM:616050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Pruritus, Edema, Arthriti... ORPHA:324964
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... OMIM:209920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, Growth delay, Hi... OMIM:616809
Nephrotic Syndrome, Type 17
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Vomiting, Medullary nep... OMIM:143880
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous c... ORPHA:98813
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai... ORPHA:2070
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Chronic Hiccup
Malnutrition, Dehydration ORPHA:396
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Propionic Acidemia
Short stature, Eczema, Poor appetite, Increased level of hippuric acid in urine, Feeding difficul... OMIM:606054
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroiditis, Delayed puberty OMIM:618985
Preeclampsia
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic ki... ORPHA:275555
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Polyhydramnios, Congenital pyloric atresia OMIM:612138
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis, Intraut... OMIM:614602
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... OMIM:263200
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Fe... OMIM:301006
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Growth delay, Hyperkeratosis, Infl... OMIM:614576
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis, Abnormal stomach morphology, Hyper... ORPHA:281090
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Dehydration ORPHA:28
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Pruritus, Dehydration, Arthritis, Conjunctivitis ORPHA:47045
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Edema, Ma... ORPHA:77297
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Nocturia ORPHA:178029
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Short stature, Eczema, Alle... OMIM:618131
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni... OMIM:155310
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre... OMIM:618935
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Feeding difficulties in infancy, Dehydration, Growth delay, Vomiting OMIM:203400
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Edema, Feeding difficulties OMIM:614652
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Ch... OMIM:616433
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Neoplasm of the stomach OMIM:114500
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... OMIM:615573
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Vomiting, Nephritis, Abdominal pain, Pericardial effusion, Nephrotic syndrome, A... ORPHA:93552
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Renal insufficiency, Anorexia, Abdominal pain, Dehydration, Feeding difficul... ORPHA:79312
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... OMIM:600995
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Hypercalciuria, Hydrops fetalis, Dehy... OMIM:557000
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Short stature, Eczema, Proteinuria, Minimal change glomerulonephriti... OMIM:618348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Abnormality of the kidney, Proteinuria, Hepatocellular carcinoma, Abdominal disten... ORPHA:369
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Dehydration, Feeding difficulties, Vomiting, Renal sodium wasting ORPHA:556030
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Pedal edema, Nephrocalcinosis, Gastrointestinal infarction... ORPHA:342
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Dehydration, Vomiting OMIM:264350
Familial Renal Glucosuria
Recurrent urinary tract infections, Moderate postnatal growth retardation, Dehydration, Renal tub... ORPHA:69076
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema ORPHA:1160
Cholestasis, Progressive Familial Intrahepatic, 12
Pruritus, Short stature, Proteinuria OMIM:620010
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abdominal pain, Orchitis, ... ORPHA:556
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Pyoderma Gangrenosum
Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis ORPHA:48104
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Junctional Epidermolysis Bullosa Inversa
Growth delay, Abnormality of the urinary system, Palmoplantar keratoderma, Gastrointestinal infla... ORPHA:79405
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... ORPHA:85450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph... ORPHA:35710
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Isovaleric Acidemia
Vomiting, Hyperglycinuria, Dehydration OMIM:243500
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hypercholanemia, Familial 1
Pruritus, Fat malabsorption, Steatorrhea OMIM:607748
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal... ORPHA:18
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Abdominal pain, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... ORPHA:263665
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural e... OMIM:603278
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Abnormal glome... ORPHA:84090
Cednik Syndrome
Nephrotic syndrome, Diffuse palmoplantar hyperkeratosis, Short stature, Proteinuria ORPHA:66631
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Renal salt wasting, Abdomina... ORPHA:275761
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Galloway-Mowat Syndrome 6
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr... ORPHA:330001
Late-Onset Junctional Epidermolysis Bullosa
Growth delay, Abnormality of the urinary system, Palmoplantar keratoderma, Gastrointestinal infla... ORPHA:79406
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:567548
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Protein-losing enteropathy, Chronic sinusitis OMIM:613502
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Renal cyst, Gastrointestinal inflammation, Dehydration, Aplasia/Hypopl... ORPHA:79404
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:656
Harlequin Ichthyosis
Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard... OMIM:620133
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Hypercalci... OMIM:219700
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, A... ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, V... OMIM:602579
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Keratitis, Chr... ORPHA:1018
Carnitine Deficiency, Systemic Primary
Diarrhea, Dicarboxylic aciduria, Vomiting, Dehydration OMIM:212140
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Cutan... ORPHA:555905
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Self-Improving Dystrophic Epidermolysis Bullosa
Growth delay, Abnormality of the urinary system, Palmoplantar keratoderma, Gastrointestinal infla... ORPHA:79411
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Poor appetite, Chronic kidney disease, Abnormal urine potassium... ORPHA:411634
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Intestinal obstruction, Sinusitis... ORPHA:183
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Glycogen Storage Disease Ib
Short stature, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Gout, Focal segmental glom... OMIM:232220
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Postnatal growth retarda... OMIM:227810
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Feeding difficultie... OMIM:617219
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Proportionate short stature, Feeding difficulties in infancy, Pustule, Atopic derm... ORPHA:171876
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Palpebral edema, Postnatal growth retardation, Feeding difficulties, Gastroesophagea... ORPHA:79350
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis OMIM:301220
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Dehydr... OMIM:214700
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation ORPHA:2143
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, ... ORPHA:223
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Growth delay, Palmoplant... ORPHA:79409
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Dehydration, Proximal tubulopathy, Vomiting OMIM:560000
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Dehydration, Renal salt wasting OMIM:610600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Abdominal distention, Megacystis, Hydronephrosis, Fetal megacystis, ... OMIM:619362
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubulointerstitial nephritis... OMIM:251000
Galloway-Mowat Syndrome 5
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... OMIM:617731
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal... OMIM:208085
Cholera
Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cr... ORPHA:173
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Gastrointestinal inflammation, Growth delay, Abnormality of the urinary system, Palmopl... ORPHA:79410
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Hepatic failure, Microcolon, Oli... OMIM:619431
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Ketonuria, Dehydration, Growth delay, Vomiting OMIM:615453
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis OMIM:614328
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Dehydration, Vomiting, Abnormality of ... ORPHA:2552
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... ORPHA:139466
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Phimosis, Esophageal stricture, Cheilitis, Neoplas... ORPHA:2908
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Polyhydramnios, Abnorma... ORPHA:2547
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd... ORPHA:2241
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Growth delay, Inflammation... OMIM:615895
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, ... OMIM:619802
Congenital Disorder Of Glycosylation, Type Ih
Edema, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... OMIM:608104
Ddost-Cdg
Constipation, Gastroesophageal reflux, Nephrotic range proteinuria, Short stature ORPHA:300536
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infa... ORPHA:544482
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Lymphedema, Protein-losing enteropathy, Polyhydramnios, Feeding difficulties OMIM:618154
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... OMIM:610725
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophagea... OMIM:201475
Renal Hypoplasia, Bilateral
Short stature, Proteinuria, Edema, Chronic kidney disease, Renal hypoplasia, Renal cyst, Feeding ... ORPHA:97362
Glycogen Storage Disease Ic
Renal insufficiency, Stomatitis, Proteinuria, Hepatocellular carcinoma, Chronic pancreatitis, Gou... OMIM:232240
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, A... ORPHA:91138
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury ORPHA:54057
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Diarrhea, Esophagea... ORPHA:391487
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Dehydration, Growth delay, Renal tubul... ORPHA:411629
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Glomerulopathy, Skin rash, Renal ... ORPHA:761
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Recurrent pneumonia, Dehydration, Feeding difficulties, Growth delay,... OMIM:616271
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis OMIM:203300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Hypertonic dehydration, Con... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Hypertonic dehydration, Con... OMIM:304800
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Abdominal colic, Proteinuria, Recurrent urinary tract infections, Dysuria, C... ORPHA:976
Mpi-Cdg
Gastrointestinal hemorrhage, Edema, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liv... ORPHA:79319
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Pruritus, Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Dehydration OMIM:214150
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... OMIM:615244
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Urethral stricture, Recurrent skin infections, Renal duplication, Polyhydram... ORPHA:79403
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hepatic failure ORPHA:664
Galloway-Mowat Syndrome
Short stature, Proteinuria, Hiatus hernia, Nephropathy, Nephrotic syndrome, Intrauterine growth r... ORPHA:2065
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis, Generalized edema OMIM:249210
Pearson Syndrome
Renal insufficiency, Proteinuria, Postnatal growth retardation, Exocrine pancreatic insufficiency... ORPHA:699
Wolcott-Rallison Syndrome
Acute hepatic failure, Renal insufficiency, Short stature, Chronic kidney disease, Dehydration, G... ORPHA:1667
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Feeding difficulties in infancy, Methylm... OMIM:251100
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Facial edema, Incre... OMIM:256550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Proteinuria, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcera... ORPHA:79259
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Ascites... OMIM:615710
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:308940
Schimke Immuno-Osseous Dysplasia
Short stature, Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Nephropathy,... ORPHA:1830
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria ORPHA:1192
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... ORPHA:329971
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Short stature, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary ... OMIM:601678
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Lichen Planopilaris
Pruritus, Hyperkeratosis, Abnormal intestine morphology, Hepatitis ORPHA:525
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Mednik Syndrome
Jejunal atresia, Diarrhea, Growth delay, Neonatal death, Volvulus, Microcolon OMIM:609313
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Keratoconjunctivitis sicca, ... ORPHA:309031
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Pruritus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... OMIM:613404
Methylmalonic Aciduria, Cblb Type
Ketonuria, Feeding difficulties in infancy, Methylmalonic aciduria, Dehydration, Vomiting OMIM:251110
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Bronchiectasis, Inflammation of the large intestine, Rectovaginal... OMIM:619708
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Short stature, Proteinuria, Stage 5 c... OMIM:617730
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Abdominal pain ORPHA:234
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Predo... ORPHA:33001
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Edema, Macular edema, Hematuria OMIM:192315
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... OMIM:254900
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Vipoma
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Dehydration, Epi... ORPHA:97282
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Oculocerebrorenal Syndrome Of Lowe
Feeding difficulties in infancy, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria... ORPHA:534
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Short stature, Proteinuria, Edema, Hiatus hernia, Stage 5 chronic ki... OMIM:617729
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration, Feeding difficulties OMIM:177735
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp... ORPHA:368
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Fanconi Renotubular Syndrome 2
Renal insufficiency, Short stature, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrops fetalis, Methy... ORPHA:79282
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Gast... ORPHA:85443
Adrenal Hypoplasia, Congenital
Renal salt wasting, Dehydration, Delayed puberty OMIM:300200
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Edema, Diarrhea, Dehydration, Vomiting ORPHA:134
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Dehydration, Vomiting, Aspiration pneumonia, Dysphagia, Myoglo... ORPHA:94093
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... ORPHA:398063
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Cleft palate, Multiple bladder diverticula, Recurrent ... ORPHA:2728
Reynolds Syndrome
Skin rash, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivi... ORPHA:779
Fabry Disease
Renal insufficiency, Proteinuria, Abdominal pain, Lymphedema, Diarrhea, Tenesmus, Urinary mulberr... OMIM:301500
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Short stature, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary ... OMIM:241200
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Vomiting, Uric acid urolithia... ORPHA:94088
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Glycogen Storage Disease Ia
Short stature, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Gout, Growth delay, Focal ... OMIM:232200
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Hematur... ORPHA:90068
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Anorexia, Edema, Reye syndrome-like episodes, Diarrhea, Dehydratio... ORPHA:20
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Elevated urinary dopamine level, Dehydration, Rhinitis, Vomiting, Nocturia ORPHA:230
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Feeding difficultie... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 1
Pruritus, Fat malabsorption, Short stature, Diarrhea OMIM:211600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac... OMIM:619351
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Sepsis In Premature Infants
Edema, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional ab... ORPHA:90051
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Ep... OMIM:249100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Chronic constipation, Nephrotic syndr... OMIM:619428
Galactosemia I
Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Decreased liver function, Galactosuria, Increased... OMIM:230400
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Dys... OMIM:607426
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Growth delay, Aminoaciduria, Glycosuria, Low-molecular-weight p... OMIM:615605
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... ORPHA:89938
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Abdominal pain, Non-acidotic proximal tubulo... ORPHA:1652
Alg6-Cdg
Macroglossia, Protein-losing enteropathy, Feeding difficulties ORPHA:79320
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Renal insufficiency, Chilblains, Recurrent urinary tract infect... OMIM:619487
Wilson Disease
Acute hepatic failure, Hyperphosphaturia, Proteinuria, Edema, Hepatocellular carcinoma, Abdominal... OMIM:277900
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Immunodeficiency 31C
Chronic oral candidiasis, Villous atrophy, Osteomyelitis, Short stature, Eczema, Diarrhea, Bronch... OMIM:614162
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Free Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Proteinuria, Hydrops fetalis ORPHA:834
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:171851
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... OMIM:601346
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of ... ORPHA:562639
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Growth delay, Vomiting, Erythroderma, ... OMIM:619510
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Bronchogenic Cyst
Pneumonia, Abdominal pain, Abnormal stomach morphology, Dysphagia, Abnormal esophagus morphology ORPHA:2357
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Short stature, Proteinuria, Renal hypoplasia, Cleft palate, High palate, Mic... ORPHA:1307
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... ORPHA:480536
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat mala... ORPHA:79303
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubuloint... ORPHA:449395
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... OMIM:243700
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Stage 5 chronic kidn... OMIM:617575
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Ectopic kidney, Lymphedema, Periorb... OMIM:235510
Oculoskeletodental Syndrome
Renal agenesis, Short stature, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losin... OMIM:618440
Fabry Disease
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Anorexia, M... ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Abdominal pain, Facial edema, Chronic ... ORPHA:567546
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Ch... ORPHA:90362
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl... ORPHA:2538
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematoc... OMIM:618183
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr... OMIM:606812
Congenital Tracheal Stenosis
Abnormality of the kidney, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormalit... ORPHA:141127
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... ORPHA:707
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Sinusitis, Pericarditis... ORPHA:900
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency, Crohn's disease OMIM:619621
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Glomerulonephritis, Proteinuria, Renal hypoplasia, Stage 5 chronic kid... OMIM:614376
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Agel Amyloidosis
Tongue atrophy, Proteinuria, Edema, Pruritus, Xerostomia, Stage 5 chronic kidney disease, Keratoc... ORPHA:85448
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Renal hypoplasia, Bloody diarrhea, Colitis, Polycystic... ORPHA:84064
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,... ORPHA:64743
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Macular edema, Glomerular scleros... ORPHA:247691
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology ORPHA:209981
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Edema, Absence of re... OMIM:120330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Renal salt wasting, Dehydration, Vomiting, Penoscrotal hypospadias ORPHA:90791
Dyschondrosteosis-Nephritis Syndrome
Short stature, Proteinuria, Nephropathy, Hematuria, Mesomelic short stature, Intrauterine growth ... ORPHA:1765
Legionnaires Disease
Nausea and vomiting, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, My... ORPHA:549
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos... ORPHA:99885
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria, Intestinal malrotation OMIM:222448
Colchicine Poisoning
Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Dehydration, Vomiting, Nausea ORPHA:31824
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Pruritus, Hepatitis, Gastrointestinal inflammation, Ascites... ORPHA:186
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Wiskott-Aldrich Syndrome
Glomerulopathy, Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthri... ORPHA:906
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Renal insufficiency, Maculopapular exant... ORPHA:99826
Esophageal Atresia
Barrett esophagus, Renal agenesis, Intestinal malrotation, Polyhydramnios, Feeding difficulties i... ORPHA:1199
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... ORPHA:488627
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Polyhydramnios, Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, Intract... OMIM:226730
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Short stature, Proteinuria, Hiatus hernia, Feed... OMIM:251300
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Renal insufficiency, Abnormal large intestine physiolo... ORPHA:171
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Diarrhea, Esophageal varix, Hepatocellular adenoma, Growth delay, Renal tubular ac... ORPHA:264580
Diamond-Blackfan Anemia 7
Polyhydramnios, Vesicoureteral reflux, Cleft palate, Horseshoe kidney, Growth delay, Esophagitis,... OMIM:612562
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, H... ORPHA:652
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Anasarca, Abnormal renal physiology OMIM:123550
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria OMIM:616901
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... ORPHA:439232
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Myh9-Related Disease
Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Proteinuria, Edema, Abdominal pain, Myocarditis, Di... ORPHA:2331
Cornelia De Lange Syndrome 1
Short stature, Pneumonia, Hypospadias, Hiatus hernia, Malrotation of colon, High, narrow palate, ... OMIM:122470
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Short stature, Proteinuria OMIM:215250
Gaucher Disease Type 1
Proteinuria, Anorexia, Abdominal pain, Pericardial effusion, Osteoarthritis, Pedal edema, Growth ... ORPHA:77259
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Renal agenesis, Rectal fistula, Rectal atre... OMIM:115470
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... OMIM:304790
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Abnormal urine potassium concentration, Dehydration, Feeding difficulties, Hy... ORPHA:168558
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Polyhydramnios ORPHA:2774
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Postnatal growth retardation, Abdominal distention, Abnormal renal morphology, As... ORPHA:1655
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Abnormal urine potassium concentration, Dehydration, Feeding difficulties, Hy... ORPHA:289548
Heme Oxygenase 1 Deficiency
Growth delay, Hematuria, Nephritis, Proteinuria OMIM:614034
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Palmoplantar hyperkeratosis ORPHA:2364
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Diarrhea, Hepatocellular adenoma, Renal tubular acid... ORPHA:79240
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Feeding difficulties, Growth delay, Esophagitis, Intrauterine growt... ORPHA:541423
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Growth delay, Hematuria,... OMIM:243910
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Abdominal distention, Cleft palate, Ascites, High palate, Protein-los... OMIM:235255
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Anal fissure, Glomerulonephri... ORPHA:79408
Sarcoidosis, Susceptibility To, 1
Anorexia, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Hypercalciuria, Arthritis... OMIM:181000
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... ORPHA:99867
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Feeding difficulties OMIM:143860
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Dehydration, Macroglossia, High palate, Intrauterine growth retarda... ORPHA:96191
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... ORPHA:512
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Growth delay, ... OMIM:231530
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palate, Rectal prolapse,... ORPHA:79076
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Hiatus hernia, Encopresis, Feeding difficulties, Gastroesoph... OMIM:616682
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymphedema, ... ORPHA:2035
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephropathy-Deafness-Hyperparathyroidism Syndrome