banner
Genes Phenotypes Help, News, Blog

Gene: Gfus MGI:98857

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GDP-L-fucose synthase
Synonyms:
Tsta3,  Tstap35b,  FX

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gfus mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Dehydration, Leukopenia, Chronic ... ORPHA:33355
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Feeding difficulties... ORPHA:79312
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hyperammonemia, Dehydration, Lethargy, Anemia ORPHA:28
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infections, Erythema no... OMIM:300635
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Vomitin... OMIM:260005
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Decreased proportion of cl... OMIM:615767
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Dehydration, Bloody diarrhea, Vomiting, Acute colitis, H... ORPHA:90038
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Facial edema, Abdominal pain, Diarrhea, Laryngeal edema, Angioedema... OMIM:619367
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... OMIM:617638
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Vomiting, Lethargy, Thrombocytopenia OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Macrocytic anemia, Hyperammonemia, Dehydration, Anemia, Leukopenia, Lethargy... ORPHA:27
Propionic Acidemia
Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Hyperglycinuria, Hyperammon... OMIM:606054
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... OMIM:608971
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... OMIM:617006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... OMIM:604416
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Congenital Disorder Of Glycosylation, Type Ih
Edema, Cryptorchidism, Abdominal distention, Diarrhea, Elevated circulating creatinine concentrat... OMIM:608104
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Depression, Lethargy ORPHA:178029
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Severe Canavan Disease
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph... ORPHA:314911
Chronic Hiccup
Malnutrition, Dehydration, Depression ORPHA:396
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed... OMIM:222748
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting, Dehydration OMIM:610370
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Dehydration, Leukopenia, Tubulointerstitial nephritis, Vo... OMIM:251000
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Abnormal intestine morpholo... OMIM:606528
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Early Myoclonic Encephalopathy
Lethargy, Feeding difficulties, Poor suck, Dysphagia ORPHA:1935
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration,... OMIM:557000
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Liver abscess, Lung abscess, Abdominal pain, Leukocytosis,... ORPHA:67
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... OMIM:618394
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Pure red cell a... ORPHA:436159
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbum... OMIM:615863
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... ORPHA:79239
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea,... ORPHA:98813
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Leukopenia... ORPHA:99828
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Feeding difficulties in infancy, Hyperammonemia, Dehydratio... OMIM:251110
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion o... OMIM:618969
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Arthri... OMIM:602390
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Vomiting, Intermittent diarrhea, Naso... ORPHA:289504
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, I... ORPHA:263665
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pa... OMIM:301074
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Vomiting, Dehydration, Decreased circulating ca... ORPHA:79159
Rabies
Nausea and vomiting, Diarrhea, Anorexia, Depression ORPHA:770
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Feeding difficult... OMIM:614857
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Edema, Malabsorption, Abdominal pain, Diarrhea, Iron deficiency anemia, A... OMIM:226300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Secretory diarrhea, Dehydration, Vomiting OMIM:616069
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hyperammonemia, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia ORPHA:289916
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Intestinal Dysmotility Syndrome
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... OMIM:620045
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Necrotizing Enterocolitis
Hyponatremia, Edema, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, ... ORPHA:391673
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype... ORPHA:98850
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint... ORPHA:37042
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Nausea and vomiting, Eosi... ORPHA:199299
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Lymphedema... ORPHA:2930
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Feeding difficulties in infancy, Hyperammonemia, Dehydratio... OMIM:251100
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Vomi... OMIM:617872
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Dehydration, Vomiti... OMIM:212140
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting ORPHA:622
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Lethargy, Dysphagia OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Episodic vomiting, Feeding difficulties OMIM:618224
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash, Feeding difficulties ORPHA:26
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Feeding difficulties in infancy, Lethargy, Edema OMIM:610498
Preeclampsia
Helicobacter pylori infection, Abdominal pain, Elevated circulating creatinine concentration, Pol... ORPHA:275555
Typhoid
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Let... ORPHA:99745
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Skin rash, Homocystinuria, Megaloblastic anemia, Thrombocyt... OMIM:277380
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Beta-Ketothiolase Deficiency
Anorexia, Edema, Leukocytosis, Diarrhea, Hyperammonemia, Dehydration, Vomiting, Hyperuricemia, Ap... ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Edema, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Hyperam... ORPHA:20
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Dehydration, Dysphagia OMIM:618958
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea OMIM:500007
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis... ORPHA:91547
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... ORPHA:100924
Trichohepatoenteric Syndrome 2
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... OMIM:614602
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... OMIM:246700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... ORPHA:927
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia ORPHA:49827
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation, Lethargy, Neonatal hyp... ORPHA:95717
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... ORPHA:2290
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... ORPHA:75234
Hypercalcemia, Infantile, 1
Lethargy, Vomiting, Hypercalcemia, Dehydration OMIM:143880
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Splenomega... OMIM:618935
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon... ORPHA:298
Citrullinemia Type I
Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Elevated plasma citrulli... ORPHA:247525
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab... OMIM:616809
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, E... ORPHA:97282
N-Acetylglutamate Synthase Deficiency
Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia OMIM:237310
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Inflammatory abnormality of the skin, Mala... ORPHA:398063
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... ORPHA:388
Developmental And Epileptic Encephalopathy 92
Lethargy, Feeding difficulties OMIM:617829
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Dehydration, Vomiting, Hyponatremia, Abdominal pa... ORPHA:275761
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Developmental And Epileptic Encephalopathy 40
Lethargy, Feeding difficulties OMIM:617065
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... ORPHA:99826
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Cystinosis
Malabsorption, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Hypophosphatemia ORPHA:213
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst... OMIM:236270
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hyperammonemia, Dehydration, Iron deficiency anemia, Hypoalb... ORPHA:1667
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis,... OMIM:256500
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Glycine Encephalopathy 1
Hyperglycinemia, Hyperglycinuria, Lethargy OMIM:605899
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Feeding difficulties ORPHA:26792
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hy... OMIM:251120
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hypogonadotropic hypogonadism, Abdominal pain, Splenomegaly, Increased circul... ORPHA:465508
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Dehydration, Vomiting OMIM:264350
Cholera
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Dehydrati... ORPHA:173
Pontocerebellar Hypoplasia, Type 6
Narrow palate, Feeding difficulties, Gastroesophageal reflux, Lethargy, Poor suck OMIM:611523
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre... ORPHA:54057
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aminoaciduria, Hyp... OMIM:619386
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chronic diarrhea,... OMIM:614576
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Protein avoidance, Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxi... OMIM:237300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thro... OMIM:616100
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Elevated circulating creatinine concentration, Dehydration, Retrograde ejaculation, Rhi... ORPHA:230
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Abdominal pain, Recurrent skin ... ORPHA:486
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... ORPHA:36234
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Abdominal distention, Secretory diarrhea, Elevated stool chloride c... OMIM:214700
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Dehydration, Feeding difficulties, Increased circulating re... OMIM:177735
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericar... ORPHA:90362
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... OMIM:613501
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy ORPHA:71277
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... OMIM:617718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenomegaly, Leukocy... OMIM:615895
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... OMIM:615285
Gaba-Transaminase Deficiency
Lethargy, Feeding difficulties OMIM:613163
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hyperammonemia, Feeding difficultie... ORPHA:2394
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Lethargy, Thrombocyt... ORPHA:79242
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy, Decreased liver function, Feeding difficulties OMIM:246900
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Thyroid Dyshormonogenesis 1
Macroglossia, Constipation, Lethargy, Goiter OMIM:274400
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhe... OMIM:619971
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... OMIM:201475
Hereditary Central Diabetes Insipidus
Lethargy, Diarrhea, Vomiting ORPHA:30925
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Splenomegaly, Increased circulating fer... ORPHA:540
Infection-Related Hemolytic Uremic Syndrome
Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Dehydration, Aminoaciduria, Erythroderma ORPHA:634
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation, Lethargy, Abnormal cir... ORPHA:95716
Mitochondrial Complex I Deficiency, Nuclear Type 5
Episodic vomiting, Vomiting, Lethargy, Dysphagia OMIM:618226
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Feeding difficulties in infancy, Pustule, Hyperkalemia, Atopic derma... ORPHA:171876
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Decreased liver function, Dehydration OMIM:602199
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Cleft palate, Hyperhomocystinemia, Elevated c... ORPHA:79284
Immunodeficiency 48
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis OMIM:269840
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Edema, Thrombocytopenia, Leukocytosis, Gas... ORPHA:90051
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
Immunodeficiency 85 And Autoimmunity
Tube feeding, Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Vomit... OMIM:619510
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Dehydration, Arthritis, Conjunctivitis ORPHA:47045
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis OMIM:615190
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Diarrhea, Abnormal blood ion concentration, Dehydration,... ORPHA:31824
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Di... OMIM:219700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Glucose-Galactose Malabsorption
Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Dehydratio... ORPHA:35710
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy, Vomiting OMIM:618225
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, ... OMIM:238970
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia ORPHA:48104
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom... ORPHA:3452
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration, Increased circulating r... OMIM:203400
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switch... OMIM:614878
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... ORPHA:36238
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia, Dysphagia OMIM:233910
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Feeding difficulties, In... ORPHA:2169
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Constipation, Feeding difficulties ORPHA:101150
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis OMIM:617900
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... OMIM:615617
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Edema, Spl... ORPHA:3386
Mpi-Cdg
Gastrointestinal hemorrhage, Edema, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Decrea... ORPHA:79319
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow... OMIM:278000
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of propylene glycol ... OMIM:215600
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... OMIM:212750
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration OMIM:161900
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Leukocytosis, H... ORPHA:94093
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Decreased plasma to... ORPHA:42
Galactosemia I
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Diarrhea, Incr... OMIM:230400
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... OMIM:603041
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Poor suck OMIM:615026
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Herpes simplex encephalitis OMIM:613002
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Dehydration, Neonatal death, Oligo... OMIM:263200
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict... ORPHA:90363
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Anemia, Irregular menstruation, Hepatocellula... ORPHA:79259
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration,... ORPHA:652
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... OMIM:607594
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Vomiting, Neu... OMIM:275350
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Edema, Abdominal pain, Discoid lu... ORPHA:93552
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Hypocalcemia... ORPHA:699
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato... ORPHA:169160
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Recurrent pneumonia, Neutropenia, Dehydration, Feeding difficulties, Leukopenia, ... OMIM:616271
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Vomiting OMIM:620126
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrops fetalis, Hyperammonemia,... ORPHA:79282
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... OMIM:255120
Brunner Syndrome
Diarrhea OMIM:300615
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Recurrent pneumonia, Dehydration OMIM:214150
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Vomiting, Dehydration OMIM:602722
Alg8-Cdg
Abnormality of the gastrointestinal tract, Hyponatremia, Edema, Diarrhea, Hydrops fetalis, Feedin... ORPHA:79325
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid... OMIM:616740
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vo... OMIM:620233
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni... OMIM:155310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... OMIM:602347
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Idiopathic Intracranial Hypertension
Lethargy, Vomiting, Nausea, Depression ORPHA:238624
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Feeding difficulties in infancy, Vo... OMIM:248600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... ORPHA:79456
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, T lymphocytopenia... ORPHA:277
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Dehydration, Feeding difficulties, Vomiting, Increased circulating re... ORPHA:556030
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea OMIM:603896
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Steatorr... OMIM:602579
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Depression, Hyperglycinemia, Pro... ORPHA:79101
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Abdominal pa... ORPHA:98849
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Pneumon... ORPHA:26793
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, T... OMIM:242860
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Oligohydramnios, Feeding difficulties OMIM:616733
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Edema, Feeding difficulties, Macroglossia, Constipatio... ORPHA:226316
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo... ORPHA:71
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... ORPHA:3261
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Gout, Inflammation o... OMIM:232220
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Acholic stools, Stea... OMIM:607765
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Vomiting OMIM:618228
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... OMIM:618523
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoi... ORPHA:391487
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... ORPHA:276556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... OMIM:608836
Snakebite Envenomation
Hyponatremia, Edema, Diarrhea, Angioedema, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomit... ORPHA:449285
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... OMIM:612692
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, L... OMIM:617099
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... OMIM:253260
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... ORPHA:32960
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creati... ORPHA:247691
Evans Syndrome
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... ORPHA:1959
Renal Hypoplasia, Bilateral
Hyponatremia, Edema, Cryptorchidism, Hyperkalemia, Feeding difficulties, Lethargy, Anemia, Oligoh... ORPHA:97362
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting, Dehydration OMIM:560000
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivit... ORPHA:309031
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Hypogonadism, Lethargy, Decreased te... OMIM:201100
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Dehydration, Aminoaciduria, Thrombocytopenia... OMIM:208085
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Ascites, Anemia ORPHA:858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... ORPHA:276575
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Depressio... ORPHA:97280
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Primary amenorrhea OMIM:600955
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Poor appetite, Diarrhea, Elevated circulating creatin... ORPHA:542323
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... OMIM:615607
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Lethargy, Feeding difficulties, Increased C-peptide ... ORPHA:324575
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria, Feeding difficulties OMIM:250620
Satoyoshi Syndrome
Diarrhea, Amenorrhea, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan... OMIM:619644
Cog7-Cdg
Diarrhea, Feeding difficulties, Elevated circulating creatine kinase concentration, Hepatosplenom... ORPHA:79333
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia OMIM:616483
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinuria, Feeding difficulties, Elevated circulating 2-hydroxybutyric acid concentration, ... OMIM:605711
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Lethargy OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Feeding difficulties OMIM:618232
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Myeloid leukemia, Menorrhagia, Hepatic failure ORPHA:331
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618120
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Feeding difficulties, Decreased serum creatinine, Hypohomocysteinemia,... OMIM:617744
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Dehydration, Adrenocorticotropic hormone excess, Azoo... ORPHA:90791
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Feeding difficulties, Increased C-peptide level ORPHA:276580
Holocarboxylase Synthetase Deficiency
Skin rash, Feeding difficulties in infancy, Hyperammonemia, Vomiting, Lethargy, Thrombocytopenia OMIM:253270
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Anemia, Abnormal circulating creatine kinase co... OMIM:615838
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Leth... ORPHA:83317
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Facial edema, Pituitary hypothyroid... ORPHA:90674
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D... OMIM:235400
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Feeding difficulti... ORPHA:90673
Central Neurocytoma
Nausea and vomiting, Lethargy, Depression ORPHA:73256
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Lethargy, Hyperlipidemia ORPHA:2089
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... ORPHA:2688
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Hyperammonemia, Dehydration OMIM:615453
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constip... ORPHA:469
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea... OMIM:615947
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption OMIM:211600
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Lymphedema, Abnormality of the spleen, Diar... ORPHA:33276
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Edema, Auto... ORPHA:324636
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Diarrhea, Hyperbilirubinemia, Steatorrhea, Hepatic failure OMIM:235555
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption... ORPHA:83471
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut... ORPHA:443811
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutaminemia, ... OMIM:311250
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Vomiting, Hyperglycinuria, Cerebral edema OMIM:201450
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... ORPHA:79076
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Eryth... ORPHA:707
Combined Oxidative Phosphorylation Deficiency 11
Polyhydramnios, Feeding difficulties, Stillbirth, Decreased liver function, Neonatal death, Lethargy OMIM:614922
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia, Chronic oral... OMIM:615387
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Chronic diarrhe... OMIM:300400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Increased circulating fr... ORPHA:71212
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Hyperammonemia, Hyperpro... ORPHA:3008
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Citrullinemia, Classic
Protein avoidance, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... OMIM:215700
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Hyperkalemia, Feeding difficulties OMIM:143860
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Facial... ORPHA:319213
Adrenal Hypoplasia, Congenital
Hyponatremia, Hypogonadotropic hypogonadism, Cryptorchidism, Dehydration, Oligozoospermia, Azoosp... OMIM:300200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Skin rash, Diarrhea, Vomiting, Lethargy, Episodic vomiting, Cerebral edema OMIM:618321
Sandhoff Disease, Juvenile Form
Diarrhea, Constipation, Dysphagia ORPHA:309162
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... ORPHA:100050
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy, High palate, Feeding difficulties OMIM:604377
Pyruvate Dehydrogenase Deficiency
Feeding difficulties in infancy, Lethargy, High palate ORPHA:765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, B lymphocytopenia, High palate, Pneumonia OMIM:614069
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... ORPHA:447
Dend Syndrome
Vomiting, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Dehydration, Aminoaciduria, ... ORPHA:534
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Neoplasm of... ORPHA:97283
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Mednik Syndrome
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Neonat... OMIM:609313
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Pedal edema, Pleural effusion,... ORPHA:188
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Abnormal ... ORPHA:264580
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Multifocal Atrial Tachycardia
Feeding difficulties in infancy, Cryptorchidism, Lethargy ORPHA:3282
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Depression, Paralytic ileus, Vomiting, Constipation, Hepatocellular car... OMIM:176000
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... OMIM:106100
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:610600
Isolated Atp Synthase Deficiency
Hyperalaninemia, Lethargy, Hypogonadism, Hyperammonemia ORPHA:254913
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric tube feeding OMIM:607906
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620125
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Feeding difficulties in infancy,... OMIM:277400
Congenital Disorder Of Glycosylation, Type Ig
Edema, Polyhydramnios, Cryptorchidism, Recurrent pneumonia, Feeding difficulties, Hypocalcemia, L... OMIM:607143
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Hyperprolinemia OMIM:619064
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... OMIM:614162
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Abnormality of neutrophils, Malabsorption, Anorex... ORPHA:33226
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Gastritis, Increased mean platelet volume, ... ORPHA:84064
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... ORPHA:97278
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the l... OMIM:232240
Susac Syndrome
Nausea and vomiting, Lethargy, Apathy ORPHA:838
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Gastroe... OMIM:223900
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Hyperuricemia OMIM:261750
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Edema, Esophageal stricture, Malnutrition, Abnormal blood i... ORPHA:79404
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Di... ORPHA:79124
Argininosuccinic Aciduria
Feeding difficulties in infancy, Protein avoidance, Hyperglutaminemia, Cerebral edema, Hyperammon... OMIM:207900
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Pineal cyst, Feeding difficulties, Iron deficiency anemi... OMIM:618885
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Feeding difficultie... OMIM:210210
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... OMIM:617475
Cog4-Cdg
Fatal liver failure in infancy, Hepatosplenomegaly, Feeding difficulties, Intermittent diarrhea, ... ORPHA:263501
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurren... OMIM:618495
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Hypernatremia OMIM:304800
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Xerostomia, Primary amenorrhea, Feeding difficulties, Chronic constipation, Gastr... ORPHA:398069
Developmental And Epileptic Encephalopathy 41
Lethargy, Feeding difficulties OMIM:617105
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom... OMIM:612736
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Feeding difficulties in infancy, Lethargy, Acute hyperammonemia, Vomiting OMIM:210200
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Glomerulonephritis, Abdominal pain, Hematemesis, Leukocytosis, Diarrhea, Elevated circ... ORPHA:340
Omenn Syndrome
Eosinophilia, Pneumonia, Edema, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Erythr... ORPHA:39041
Immunodeficiency, Common Variable, 2
Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis,... OMIM:240500
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Thrombocytopenia, Esophageal stricture, Cryptorchid... OMIM:617053
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypo... OMIM:603554
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ... ORPHA:171
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Vomiting, Hyperglycinemia OMIM:614299
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Diarrhea, Vomiting, Hypophosphatemic rickets, Leth... ORPHA:263455
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Con... ORPHA:18
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis OMIM:614328
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Secreto... OMIM:618183
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Nonimmune hydrops fetalis, Eryt... ORPHA:124
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Meningococcal Meningitis
Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, ... ORPHA:33475
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Crigler-Najjar Syndrome
Lethargy, Infectious encephalitis ORPHA:205
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy OMIM:608643
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Cleft palate, High... OMIM:154230
Enterokinase Deficiency
Diarrhea, Hypoproteinemia, Hypoproteinemic edema OMIM:226200
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior... OMIM:142680
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Chronic ... ORPHA:169154
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Splenomeg... ORPHA:79240
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, E... OMIM:212065
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypoplastic anemia, ... ORPHA:77297
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leu... ORPHA:3226
Pseudo-Torch Syndrome 2
Lethargy, Pleural effusion, Ascites, Thrombocytopenia OMIM:617397
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Bile duct proliferation, Hyperbi... OMIM:613812
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula OMIM:601110
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Poor appetite, Elevated circulating creatinine concentration, Dehydra... ORPHA:411634
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Lamellar Ichthyosis
Chronic otitis media, Dehydration, Erythroderma ORPHA:313
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... OMIM:226990
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Insulinoma
Lethargy, Primary hyperparathyroidism, Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma ORPHA:97279
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Polyhydramnios, Jej... ORPHA:436252
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... ORPHA:97261
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Xerostomia, Primary amenorrhea, Hypogonadism, Smal... ORPHA:398079
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Angioedema, Vomiting, Peau d'orange, Nausea ORPHA:79455
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Pericardial effusion, Splenomegaly,... ORPHA:36412
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Congenital-Onset Steinert Myotonic Dystrophy
Polyhydramnios, Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysp... ORPHA:589821
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... OMIM:601495
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra... ORPHA:2241
B4Galt1-Cdg
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Edema, ... ORPHA:79332
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Recurrent pneumonia, Bronchiect... OMIM:243700
Harlequin Ichthyosis
Dehydration, Erythroderma ORPHA:457
Immunodeficiency 22
Pericarditis, Abscess, Diarrhea, Protracted diarrhea, Anemia, Panniculitis, Chronic oral candidia... OMIM:615758
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Decre... ORPHA:168558
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circul... ORPHA:427
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hepatic failure, Transient hyperlipidemia ORPHA:156
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Bronchiectasis OMIM:619468
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Oral-pharyngeal dysphagia, Splenomegaly, Hypomagnesemia, Generali... OMIM:219800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Decre... ORPHA:289548
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Leukopenia, Nausea, Thrombocytopenia ORPHA:83313
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Conjunctivitis, Apathy, Dysphagia, Lethargy, N... ORPHA:863
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Bloody diarrhea, Hemolytic anemia, Chilblains, Pericardial effusion, H... OMIM:615846
Congenital Disorder Of Glycosylation, Type Iij
Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection of the... OMIM:613489
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth... OMIM:615751
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Dyspareunia, Abnormality... ORPHA:36426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Bicarbonaturia, Dehydration, Hypokalemia, Aminoaciduria, Vomiting ORPHA:47159
Attrv30M Amyloidosis
Diarrhea, Constipation, Impotence ORPHA:85447
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Steatorrhea, High palate, Neutropenia, Hyperechogenic pancreas, Thro... OMIM:617941
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Depression, Inflamma... ORPHA:70591
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase concentration, Ed... ORPHA:254892
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Depression, Arthritis, Constipation ORPHA:36397
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Caspase 8 Deficiency
Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Decreased CD4:CD8 ratio OMIM:607271
Diarrhea 13
Hypoalbuminemia, Secretory diarrhea, Vomiting OMIM:620357
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abd... ORPHA:829
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria, Positive ferric chloride test OMIM:250900
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... ORPHA:99829
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr... ORPHA:343
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... ORPHA:29073
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hype... OMIM:620358
Familial Renal Glucosuria
Elevated hemoglobin A1c, Dehydration ORPHA:69076
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Vomiting, Dysphagia OMIM:607483
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory diarrhea, Cleft palate, R... OMIM:270420
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... ORPHA:65682
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Neutropenia, O... OMIM:613989
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyhydra... OMIM:601678
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea, Polyhydramnios OMIM:266250
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Edema, Gastrointestinal obstruction, Episo... ORPHA:100078
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Polyhydramnios, Conjugated hyperbilirubinemia, Abdominal distention, Ascites, H... OMIM:617156
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Addison Disease
Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Nausea and vomit... ORPHA:85138
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Facial edema, Diarrhea, Conjunctivitis, Dy... ORPHA:99824
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Depression, Bradykinesia, Male sexual dysfunction, Constipation, Apathy,... ORPHA:2828
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Ascites, Aminoaciduria, High palate, Hyperbilirubinemi... OMIM:606812
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon, Polyhydramnios OMIM:619362
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia OMIM:616457
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Conjugated hyperbilirubinemia, Splenomegaly, Cryptorchidism, Feeding difficultie... OMIM:614866
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Glomerulonep... OMIM:614376
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, An... ORPHA:169105
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B... ORPHA:100075
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea... ORPHA:549
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Elevated circulating creatinine concentration ORPHA:329918
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Chronic tubulointerstitial nephritis... OMIM:602088
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Lethargy, Abnormality of circulating enzyme level ORPHA:35706
Lysinuric Protein Intolerance
Hypolysinemia, Protein avoidance, Splenomegaly, Increased circulating ferritin concentration, Mal... OMIM:222700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Sinus... OMIM:102700
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Microcytic anemia OMIM:618805
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of ... ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea... OMIM:614817
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Nausea and vomiting, Leukocytosis, Cerebral edema, Depression, Hashimoto thyroiditi... ORPHA:83601
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Polyhydramnios, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric... OMIM:226730
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarr... OMIM:260920
Rat-Bite Fever
Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Depression, Lethargy, Abno... ORPHA:99832
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Dehydration, Aminoaciduria, Hypokalemia, Vomiting, Constipation... ORPHA:411629
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Malabsorption, Chronic diarrhea, Herpes simplex encephalitis, Decrease... OMIM:233600
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:159
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Ogden Syndrome
High, narrow palate, Lethargy, Cryptorchidism ORPHA:276432
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... OMIM:242700
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Diamond-Blackfan Anemia 7
Macrocytic anemia, Polyhydramnios, Cleft palate, Increased mean corpuscular volume, Esophagitis, ... OMIM:612562
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Palpebral edema, Feeding difficulties, Hyposerinemia, Gastroesophageal reflux, Esophagitis ORPHA:79350
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Feeding difficulties in infancy, Hypocalcemia, Lethargy, Poor suck, Chronic h... ORPHA:746
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Chronic diarrhea, Steatorrhea OMIM:619481
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Medulloblastoma
Nausea and vomiting, Lethargy, Adenomatous colonic polyposis ORPHA:616
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Elevated circulati... ORPHA:93126
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... ORPHA:99818
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Pericardial effusion, Splenomegaly, Iridocyclitis, Enlarged lacrimal glan... OMIM:181000
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Hypernatremic dehydration, Anorexia, Polyhydramnios, Feeding difficulties, C... ORPHA:223
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Diarrhea, Nausea and vomiting ORPHA:56425
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Anemia ORPHA:1842
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Abdominal pain, Malnutrition, Bicarbonaturi... OMIM:229600
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea... ORPHA:226307
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Skin ras... ORPHA:331206
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Cleft palate, Poor suck, Feeding difficult... ORPHA:220386
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... OMIM:610163
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... ORPHA:100082
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Protein avoidance, Hepatitis, Hyperammonemia, Feeding difficulties, Hyperornithinemia, Decreased ... ORPHA:415
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Pedal edema, Intermittent dia... ORPHA:330001
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... ORPHA:247353
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... ORPHA:3240
Caroli Disease
Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Abdominal pain, Conjugated hyperbilirub... ORPHA:53035
Herpes Simplex Virus Encephalitis
Hyponatremia, Nausea and vomiting, Neutrophilia, Elevated circulating C-reactive protein concentr... ORPHA:1930
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infection of the gastroin... ORPHA:51890
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Depress... ORPHA:79276
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis,... OMIM:308230
Nijmegen Breakage Syndrome
Anal stenosis, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficiency, Thrombocy... OMIM:251260
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Thrombocytopenia, Bloody diarrh... ORPHA:464321
Fabry Disease
Abdominal pain, Lymphedema, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia OMIM:301500
Rothmund-Thomson Syndrome Type 1
Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Facial edema, Cryptorchidism, Diarr... ORPHA:221008
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration, Abdominal pain OMIM:614723
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Oligohydramnios, Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Dpm1-Cdg
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome... ORPHA:79322
Melas
Hypoparathyroidism, Bipolar affective disorder, Intestinal pseudo-obstruction, Hypogonadotropic h... ORPHA:550
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Hypogonadism, Microcolon ORPHA:163746
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bro... OMIM:300755
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Nausea, Pustule, Granuloma, Vomiting, Lethargy, Infectious encephalitis, In... ORPHA:68
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyhydramnios, Diarrhea, Dehydration, Hypoch... OMIM:241200
Methanol Poisoning
Hyperlipidemia, Vomiting, Diarrhea, Abdominal pain ORPHA:31825
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Immunodeficiency 56
Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic ... OMIM:615207
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chronic diarrhea, B lymphocytopenia... OMIM:602450
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Feeding difficulties in infancy, Hyperhomocystinemia, Cystathioninemia, Lethar... ORPHA:395
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Acne, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hyperkalem... ORPHA:90794
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, E... ORPHA:100085
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic diarrhea OMIM:614699
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... OMIM:619991
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Palpebral edema, Diarrhea, Abnormal T cell subset distribution, Arthriti... ORPHA:221139
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Pheochromocytoma, High... OMIM:162300
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Rothmund-Thomson Syndrome
Calcinosis, Aplastic anemia, Skin rash, Facial edema, Nasogastric tube feeding in infancy, Diarrh... ORPHA:2909
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrat... OMIM:615084
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... ORPHA:100093
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatosplenomegaly, M... OMIM:309900
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... ORPHA:79351
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Edema, Abdominal pain, Myocarditis, Leukocytosis, D... ORPHA:2331
Oligomeganephronia
Elevated circulating creatinine concentration, Dehydration ORPHA:2260
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Lymphedema, Chronic diarrhea, Polycysti... ORPHA:2176
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Increased nuchal translucency, Functional abnormality of the gastrointe... ORPHA:357001
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... ORPHA:439232
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Macroglossia, Glossitis ORPHA:2221
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... OMIM:617765
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia ORPHA:90035
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Facial edema, Cryptorchidism, Diarrhea, Functional abnormality of th... ORPHA:221016
Neuroendocrine Tumor Of The Colon
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... ORPHA:100080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,... OMIM:174000
Bartter Syndrome Type 4
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... ORPHA:89938
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Nausea and vomiting, Decreased female libido, Hypercalcemia, Ano... ORPHA:95409
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivitis, Cholecy... ORPHA:99827
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Acrodermatitis Enteropathica
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Co... ORPHA:37
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatosplenomegaly, Decreased serum zinc, Esophagitis, Hepatic failure, Oli... ORPHA:541423
Glutaric Aciduria Iii
Diarrhea, Vomiting, Goiter OMIM:231690
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Diarrhea, Bronchiectasis ORPHA:411703
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Nodular goiter ORPHA:1332
Caroli Syndrome
Cholangiocarcinoma, Liver abscess, Cholangitis, Abdominal pain, Hematemesis, Hypersplenism, Leuko... ORPHA:480520
Familial Glucocorticoid Deficiency
Hyponatremia, Anorexia, Cryptorchidism, Diarrhea, Hyperkalemia, Testicular adrenal rest tumor, Ep... ORPHA:361
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Splenomegaly, Feeding difficulties in infancy, Chronic diarrhea, Hep... OMIM:613385
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Mitochondrial Complex I Deficiency, Nuclear Type 1
Feeding difficulties in infancy, Splenomegaly, Cerebral edema, Vomiting, Hyperalaninemia, Hepatic... OMIM:252010
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Poikilocytosis, Fava b... OMIM:300908
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Hashimoto thyroiditis, Female infertility, Celiac disease, High,... ORPHA:881
Eisenmenger Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Abdominal distention, Hypoc... ORPHA:97214
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia OMIM:617827
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... ORPHA:276152
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Facial edema, ... ORPHA:293173
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:1302
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Dehydration, Macroglossia, High palate, Oligohydramnios ORPHA:96191
Isolated Complex I Deficiency
Increased serum pyruvate, Lethargy, Vomiting, Feeding difficulties ORPHA:2609
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Polyhydramnios, Feeding difficulties in infancy, Pylor... ORPHA:1199
Congenital Myopathy 20
Chronic diarrhea, High palate OMIM:620310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Diarrhea, Hepatosplenomegaly, Feed... OMIM:618278
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Dehydration OMIM:607364
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Chronic diarrhea, Decre... ORPHA:14
Encephalitis Lethargica
Lethargy, Bowel incontinence ORPHA:83600
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... ORPHA:99921
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Ab... OMIM:612852
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Palpebral edema, Microcytic anemia, Protruding tongue, Kerati... ORPHA:99843
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Impotence, Constipation, Episodic vomiting, Pulmonary edema OMIM:105210
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Biotinidase Deficiency
Skin rash, Hyperammonemia, Conjunctivitis, Lethargy, Eczematoid dermatitis ORPHA:79241
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... ORPHA:2538
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomiting, Hy... ORPHA:466650
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Male hypogonadi... ORPHA:90321
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon, Oligohydramnios OMIM:619351
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Lethargy, Episodic... OMIM:307030
Trichohepatoenteric Syndrome 1
Villous atrophy, Increased mean platelet volume, Polyhydramnios, Splenomegaly, Increased serum ir... OMIM:222470
Blue Diaper Syndrome
Diarrhea, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentra... OMIM:620306
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... ORPHA:93932
Japanese Encephalitis
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis... ORPHA:79139
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocyto... ORPHA:235
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Dehydration, Hypophosphatemia, Hypokalem... ORPHA:3337
Cryoglobulinemia, Familial Mixed
Anasarca, Elevated circulating creatinine concentration OMIM:123550
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:612782
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Histiocytoid Cardiomyopathy
Cleft palate, Polycystic ovaries, Vomiting, Lethargy, Pulmonary edema ORPHA:137675
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Trichohepatoneurodevelopmental Syndrome
Polyhydramnios, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophag... OMIM:618268
Renal Hypoplasia
Dehydration ORPHA:93101
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Diarrhea OMIM:252920
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbi... ORPHA:348
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Recurrent pa... ORPHA:676
Neuroblastoma, Susceptibility To, 1
Diarrhea, Anemia, Abdominal pain OMIM:256700
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Diarrhea, Skin rash OMIM:601979
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Pyelonephritis, Pituitary growth... ORPHA:730
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Hypogonadism... OMIM:601675
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea OMIM:252900
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Cholestasis, Progressive Familial Intrahepatic, 9
Splenomegaly, Diarrhea OMIM:619849
Kufor-Rakeb Syndrome
Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy ORPHA:306674
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Hypercholes... ORPHA:273
Posterior Urethral Valve
Lethargy, Oligohydramnios, Pyelonephritis ORPHA:93110
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Chronic dia... OMIM:208900
Farber Disease
Chronic diarrhea, Hydrops fetalis, Feeding difficulties, Anemia, Hepatosplenomegaly, Arthritis, A... ORPHA:333
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Feeding difficulties OMIM:201470
Chikungunya
Diminished motivation, Maculopapular exanthema, Skin rash, Erythema nodosum, Facial edema, Diarrh... ORPHA:324625
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Abnormal ... ORPHA:653
Acute Liver Failure
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Hyperammonemia, Depression, Cerebral... ORPHA:90062
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral can... ORPHA:723
Papillorenal Syndrome
Elevated circulating creatinine concentration, Edema OMIM:120330
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes... ORPHA:500055
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties OMIM:602473
Sandhoff Disease
Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia, Impotence OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea OMIM:618050
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Dubowitz Syndrome
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... OMIM:223370
Alg9-Cdg
Villous atrophy, Pericardial effusion, Diarrhea, Hydrops fetalis, Hypoplasia of the ovary, Gastro... ORPHA:79328
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media OMIM:252940
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly... OMIM:619534
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Vomiti... ORPHA:677
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Complete Atrioventricular Septal Defect
Lethargy, Recurrent pneumonia, Feeding difficulties ORPHA:1329
Glycine Encephalopathy
Lethargy, Poor suck, Hyperglycinemia ORPHA:407
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Dehydration OMIM:259900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t... OMIM:256810
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Thrombocytopenia, Anorectal anomaly... ORPHA:647
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Dehydration ORPHA:99885
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Ogden Syndrome
Tube feeding, Pulmonary edema, Eczema, Lymphedema, Cryptorchidism, Diarrhea, Narrow palate, Feedi... OMIM:300855
Glycogen Storage Disease Ia
Hyperlipidemia, Gout, Hyperuricemia, Protuberant abdomen, Hepatocellular carcinoma, Intermittent ... OMIM:232200
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Gout, Reduced sperm motility, Hyperuricemia, Pancr... OMIM:137920
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf... ORPHA:96182
Gitelman Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Pericardial effusion, Diarrhea, Hy... ORPHA:358
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Increased circulating free fatty acid l... OMIM:610768
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Panhypopituitarism, Decreased testicular size OMIM:300953
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea, Abnormal circulating cholesterol concentration OMIM:213700
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic constipation, High ... OMIM:619005
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch... OMIM:614921
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Ch... OMIM:300972
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:614441
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Chronic diarrhea OMIM:619484
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Lymphedema, Narrow palate, Hamartomato... ORPHA:109
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Generalized edema OMIM:617478
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Hurler Syndrome
Splenomegaly, Chronic diarrhea, Feeding difficulties, Depression, Macroglossia, Rhinitis ORPHA:93473
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Bronchial Neuroendocrine Tumor
Pneumonia, Bowel urgency, Poor appetite, Elevated circulating growth hormone concentration, Anore... ORPHA:97287
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... ORPHA:509
Mucopolysaccharidosis Type 3
Malabsorption, Splenomegaly, Intermittent diarrhea, Macroglossia, Constipation, Otitis media, Dys... ORPHA:581
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Edema, Abdominal pain, Myocard... ORPHA:466677
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diarrhea, Recurr... ORPHA:420741
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Constipation, Esophagitis, Dysphagia ORPHA:495818
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Anemia OMIM:620072
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
African Trypanosomiasis
Pericarditis, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Myocarditis, Diarrhea,... ORPHA:3385
Aspartylglucosaminuria
Aspartylglucosaminuria, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropenia, Macroo... OMIM:208400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties OMIM:615356
Hydranencephaly
Lethargy, Atrophic pituitary gland ORPHA:2177
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Thyroid hyperplasia ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Diarrhea, Thyroid hyperplasia ORPHA:424
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Splenomegaly, Chronic diarrhea, Recurrent infection of the gastroint... OMIM:612132
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Exocrine pancreatic insufficiency, Oligohydramnios, Feeding difficulties,... ORPHA:2255
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Diarrhea, Feeding difficulties, Vomiting, Recurrent pancreatitis, Dysphagia... OMIM:606721
Viss Syndrome
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... OMIM:619472
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Colon perforation, Pancreatic hypoplasia, Microcolon OMIM:600001
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Cryptorchidism, Chron... OMIM:615873
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Zttk Syndrome
Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... OMIM:617140
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... ORPHA:198
Nmda Receptor Encephalitis
Ovarian teratoma, Diarrhea, Depression, Vomiting, Testicular teratoma, Mania ORPHA:217253
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Microcolon, Polyhyd... ORPHA:1662
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Depression ORPHA:909
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Chronic diarrhea, Hepatosplenomegaly, Macroglossia, Arthritis ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Chronic diarrhea, Hepatosplenomegaly, Macroglossia, Arthritis ORPHA:217093
Mucopolysaccharidosis Type 2
Splenomegaly, Macroglossia, Chronic diarrhea, Hip osteoarthritis ORPHA:580
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility,... ORPHA:500150

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gfus

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gfus.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gfustm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gfustm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gfustm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter