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Gene: Abcb1a MGI:97570

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ATP-binding cassette, sub-family B member 1A
Synonyms:
mdr-3,  P-glycoprotein,  P-gp,  MDR3,  Evi32,  Mdr1a,  Pgy-3,  Pgy3,  multiple drug resistant 1a,  Pgp

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 Abcb1a mutations

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

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

The table below shows human diseases associated to Abcb1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244

The table below shows human diseases predicted to be associated to Abcb1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in... OMIM:615767
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ulcerative colit... OMIM:617638
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Increa... OMIM:605258
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... ORPHA:98813
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A... OMIM:300310
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Malabsorption OMIM:137100
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Chronic diarrhea, Recurrent pneumonia, Decreased circulatin... OMIM:619281
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... ORPHA:397596
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa... OMIM:613502
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... OMIM:617241
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Fail... OMIM:616069
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Skin rash, Pneumonia, Reduced natural killer cell activity, Chronic diarrhea, ... OMIM:300400
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased circulating IgE level, Recur... ORPHA:277
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Increased circulating IgE level, Chronic diarrhea, Bronchiectasis, Macroglossi... OMIM:618523
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level OMIM:609529
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Bronchiectasis, Increased circulating IgG lev... OMIM:618534
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Decrease... OMIM:619510
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... ORPHA:343
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increas... OMIM:256500
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... OMIM:614699
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Abnormal natural killer cell physiology, Recurrent sinusitis, Decreased circulating anti... OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Gastrointest... ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Chronic ot... ORPHA:33355
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Increased circul... OMIM:304790
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Reduced natural killer cell activity, Feeding difficulties in infancy... OMIM:616050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis, F... OMIM:616395
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Failure to thrive in infancy, Abdominal pain, Increased circulating IgA level, Diarrhe... OMIM:617099
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... OMIM:612692
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Chronic diarrhea, Increased cir... ORPHA:169154
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 48
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... OMIM:618282
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level, Recurrent otitis m... OMIM:618495
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulati... OMIM:619824
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Reduced antigen-... OMIM:616433
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Increased circulating IgA level, Increased circulating IgG level, In... OMIM:603909
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Failure to thrive, Pneumonia, Erythema nodosum, Chronic diar... OMIM:614700
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgG level, In... ORPHA:83313
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Increased circulating IgE level, Atopic dermatitis, We... ORPHA:2902
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Thyroiditis, Uveitis, Increased circulating IgG level, Keratocon... OMIM:617388
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Decreased lymphocyte ... OMIM:615592
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Absent isohemagglutinin level, Recurrent otitis media, Failure to t... OMIM:613501
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Pgm3-Cdg
Increased circulating IgG level, Gastroesophageal reflux, High palate, Chronic otitis media, Memb... ORPHA:443811
Immunodeficiency, Common Variable, 2
Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurren... OMIM:240500
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Increased circulating IgM level, Conjunctivitis, D... ORPHA:99824
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Dysgammaglobulinemia, Malabsorption ORPHA:100025
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... OMIM:615577
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythrod... ORPHA:169160
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating... OMIM:619802
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thr... DECIPHER:45
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:607594
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Failure to... OMIM:617744
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Abnormal B cell ... OMIM:619652
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Esophageal stricture, Increa... OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... OMIM:308240
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Recurrent ... ORPHA:275
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Abdominal distention, Hepatitis, Gastrointestina... ORPHA:186
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media... OMIM:602450
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Hematemesis, Reduced natural killer cell activity, Diarr... OMIM:301000
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Multiple Myeloma
Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Weight los... ORPHA:29073
Immunodeficiency 22
Pericarditis, Failure to thrive, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, ... OMIM:615758
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Increased circulating antibody level OMIM:615285
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG leve... OMIM:616005
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency 62
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... OMIM:618459
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... OMIM:260920
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Failure to thrive, Skin rash, Increased circulating IgA level, Pustule, Increased circu... OMIM:615934
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Abnormal immunoglob... ORPHA:276
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, V... ORPHA:448237
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Prostatitis, Increased circulating IgE level, Xero... ORPHA:449432
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Obesity ORPHA:3409
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Malabsorption ORPHA:1116
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... ORPHA:2930
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 46
Chronic diarrhea, Decreased circulating antibody level, Conjunctivitis, Chronic oral candidiasis,... OMIM:616740
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody level, Weight loss, Ne... ORPHA:90003
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Immunodeficiency 17
Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anope... OMIM:615607
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia ORPHA:217012
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Thymoma
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... ORPHA:99867
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Failure to thrive in infancy, Partial IgA deficiency, Pustule, Acute otitis media, Chr... ORPHA:35078
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Failure to thrive, Cholangitis, Chronic diarrh... OMIM:615207
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Cerebellar atrophy OMIM:615945
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Eosinophilia, Fasciculations ORPHA:99965
Myeloma, Multiple
Paraproteinemia OMIM:254500
Adult-Onset Nemaline Myopathy
High palate, Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... OMIM:616053
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... OMIM:620282
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... OMIM:614860
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level... OMIM:614576
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:616576
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... ORPHA:79078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Ch... OMIM:600802
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ... ORPHA:2298
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Lead Poisoning
Skin rash, Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased c... ORPHA:330015
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Cleft palate, Chronic otitis m... ORPHA:2314
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Decreased circulating antibody level, Gastroe... ORPHA:90045
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... OMIM:241600
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... ORPHA:90363
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bronchiectasis, Recurrent pne... OMIM:300755
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... OMIM:226300
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Increased circulating antibo... ORPHA:90280
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... OMIM:610245
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Gait ataxia ORPHA:423296
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections, Clef... OMIM:620210
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... ORPHA:75233
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Weight loss ORPHA:52416
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... OMIM:608971
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Dyskeratosis Congenita, Digenic
Decreased testicular size, Failure to thrive, Decreased circulating total IgM, Gastroesophageal r... OMIM:620040
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... ORPHA:141152
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign... ORPHA:98762
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Intestinal p... ORPHA:457485
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Hepatitis, Uveitis, Melena, Increased circulating IgG level, In... ORPHA:319251
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... ORPHA:572
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted dia... ORPHA:331206
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... OMIM:212750
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Celiac disease, Decreased circulating antibody level, Interstitial pneumonitis, Abnormal ... OMIM:615952
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Bron... OMIM:615468
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Transcobalamin Ii Deficiency
Failure to thrive, Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG... OMIM:275350
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Cachexia, Abd... ORPHA:83469
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Brucellosis
Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious encephalitis... ORPHA:1304
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Immunodeficiency 52
Failure to thrive, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level OMIM:617514
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Bronchiectasis, Impaired Ig cla... OMIM:608184
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, S... ORPHA:331235
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Failure to thrive, Gastroesophageal reflux, Feeding difficulties ORPHA:251009
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cleft palate, Decreased circulating antibody level ORPHA:85317
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat... ORPHA:449563
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... ORPHA:449395
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Brain atrophy, Dys... ORPHA:306669
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Spasticity, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Thyro... ORPHA:64744
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Syndromic Diarrhea
Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Hypoplasia of th... ORPHA:84064
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... ORPHA:183675
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... ORPHA:77297
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Chronic diarrhea, R... OMIM:614379
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... OMIM:617237
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Glomeruloneph... OMIM:613496
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst, Abnormal circulating IgG level, F... OMIM:226990
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Diarrhea, Cryoglobulinemia, Monoclonal immu... ORPHA:33226
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Leishmaniasis
Rhinitis, Increased circulating antibody level, Anorexia, Weight loss ORPHA:507
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectas... OMIM:181000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Decreased circulating IgA level OMIM:215250
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... OMIM:600363
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... ORPHA:3452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Clumsiness OMIM:253600
Tick-Borne Encephalitis
Anorexia, Increased circulating IgG level, Increased circulating IgM level, Vomiting, Dysphagia, ... ORPHA:297
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Failure to thrive, Sinusitis, Aplasia of the t... ORPHA:83471
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Increased circulating IgM level, Bone marrow hypocellularity, ... OMIM:617303
Congenital Disorder Of Glycosylation, Type Iib
Feeding difficulties in infancy, High palate, Decreased circulating IgA level, Decreased circulat... OMIM:606056
Lambert Syndrome
Failure to thrive in infancy, Decreased circulating antibody level ORPHA:1296
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Bloom Syndrome
Skin rash, Pneumonia, Poor appetite, Gastrostomy tube feeding in infancy, Esophageal neoplasm, Sm... ORPHA:125
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... ORPHA:79263
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, Di... ORPHA:98850
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, Nep... ORPHA:449427
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Pneumocystosis
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody... ORPHA:723
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level OMIM:616910
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohemagglutinin ... OMIM:615559
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Small for gestational age, Abdominal distentio... ORPHA:90051
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Constipation, Dysphagia, Fail... OMIM:613327
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Prolidase Deficiency
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, High palate, Increased circulating... OMIM:170100
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Decreased circulating antibody level OMIM:301045
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Icf Syndrome
Macroglossia, Decreased circulating antibody level, Malabsorption, Protruding tongue ORPHA:2268
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Decreased circulating antibody le... ORPHA:169105
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... ORPHA:3392
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties in infanc... OMIM:613385
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... ORPHA:329918
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Ataxia, Dysmetria OMIM:617917
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy... ORPHA:33445
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... OMIM:106100
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Mulibrey Nanism
Cachexia ORPHA:2576
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Cryptorchidism, Recurrent pneumonia, Feeding diffic... OMIM:607143
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Bone Marrow Failure Syndrome 4
Eczema, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... ORPHA:229717
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Smith-Kingsmore Syndrome
Cryptorchidism, Feeding difficulties, Large for gestational age, Decreased circulating IgA level OMIM:616638
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Roifman Syndrome
Hippocampal atrophy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia OMIM:617916
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Nausea, Abdominal pain, Intestinal ... ORPHA:544482
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... OMIM:242700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Increased circulating antibo... ORPHA:79139
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Riddle Syndrome
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Decreased circulating tota... ORPHA:420741
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Protruding tongue, Decreased circulating antibody level, Feeding difficulties,... OMIM:617062
Mogs-Cdg
Decreased circulating antibody level, Hydrocele testis, Decreased circulating total IgM, Chronic ... ORPHA:79330
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Vici Syndrome
Decreased circulating IgG level, Feeding difficulties in infancy, Feeding difficulties, High pala... ORPHA:1493
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Abdominal pain,... ORPHA:99829
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Moynahan Syndrome
Cachexia ORPHA:2574
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Bradykine... OMIM:617435
Alg12-Cdg
Intestinal malrotation, Partial absence of specific antibody response to Haemophilus influenzae t... ORPHA:79324
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Vomi... OMIM:212065
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... ORPHA:329284
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Increased circulating IgM level, Conjunctivitis, Bone marrow hypocellularity, Recur... ORPHA:505248
Wells Syndrome
Eosinophilia ORPHA:901
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Oral leukoplakia, Decreased circulating antibody level OMIM:619767
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function, Cachexia ORPHA:42
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Decreased lymphocyte proliferation in response to anti-CD3, Eczem... OMIM:614162
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, G... OMIM:610185
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc... OMIM:601675
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Paraproteinemia, Gastroesophageal ref... ORPHA:167635
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Vomiting, Septic arthritis OMIM:617780
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... ORPHA:391487
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Increased circu... ORPHA:228123
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, Cerebellar vermi... OMIM:213200
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Constipati... ORPHA:813
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... ORPHA:85443
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Aganglionic megacolon, Malabsorption ORPHA:935
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Acute pancreatitis, Anorexia, Abdominal pain, Hematemesis, Erythema nodosum,... ORPHA:99827
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Bone Marrow Failure Syndrome 5
Testicular atrophy, Oral leukoplakia, Decreased circulating antibody level OMIM:618165
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Complement Component 5 Deficiency
Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple... OMIM:609536
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Sinusitis, Chronic diarrhea, Bronchiectasis, ... OMIM:208900
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... ORPHA:275761
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis, Increased circulating an... OMIM:617591
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Decreased... OMIM:613070
Griscelli Syndrome
Pyloric stenosis, Hepatitis, Bone marrow hypocellularity, Decreased circulating antibody level ORPHA:381
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Feeding difficulties, Decreased circulating total IgM, Constipation, H... OMIM:618162
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating ant... OMIM:618183
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Diarrhea, Chronic mucocutaneous candidiasis, Abnormal circulating i... ORPHA:79124
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Immunodeficiency 47
Decreased circulating total IgG, Chronic diarrhea, Decreased circulating antibody level, Decrease... OMIM:300972
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia OMIM:618387
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1, Panhypopituitarism, Decreased testicular size OMIM:300953
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Decreased... ORPHA:1572
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... ORPHA:206436
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Poor appetite, Diarrhea, Failure to thrive, Decreased testicular size OMIM:201100
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, High palate, Decreased circulating antibody level OMIM:619750
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Mast Cell Sarcoma
Mastocytosis, Weight loss ORPHA:66661
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atr... OMIM:616719
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoa... OMIM:618877
Brunner Syndrome
Diarrhea OMIM:300615
Lymphoproliferative Syndrome 1
Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Decreased circulating antibody level, Hydrocele testis, High ... OMIM:605309
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Abnorm... OMIM:619573
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV encephalitis, Uveitis, Decreased circulating antibody level, Decreased l... OMIM:615122
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Cystic Echinococcosis
Abdominal symptom, Abnormality of the testis size, Weight loss, Membranous nephropathy, Ovarian c... ORPHA:400
Classic Hodgkin Lymphoma
Skin rash, Poor appetite, Anorexia, Weight loss, Bone marrow hypocellularity ORPHA:391
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Mgat2-Cdg
Failure to thrive, Gastroparesis, Decreased circulating antibody level, Feeding difficulties, Gas... ORPHA:79329
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... OMIM:615846
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Failure to thrive ORPHA:217346
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Bloom Syndrome
Small for gestational age, Cryptorchidism, Bronchiectasis, Malar rash, Decreased circulating tota... OMIM:210900
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... ORPHA:398063
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614831
Dubowitz Syndrome
Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submucous ... OMIM:223370
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, ... OMIM:602579
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chronic oral candidiasis, Recurrent o... OMIM:301078
Encephalitis Lethargica
Increased circulating antibody level, Bowel incontinence ORPHA:83600
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... OMIM:131100
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ... OMIM:617013
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Mevalonic Aciduria
Failure to thrive, Skin rash, Failure to thrive in infancy, Diarrhea, Vomiting, Morbilliform rash... OMIM:610377
Congenital Analbuminemia
Small for gestational age, Increased circulating antibody level, Obesity ORPHA:86816
Cowden Syndrome 1
Colonic diverticula, Thyroiditis, Decreased circulating antibody level, Hamartomatous polyposis, ... OMIM:158350
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma OMIM:601847
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Paraproteinemia ORPHA:439232
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, High, narrow palate, Cryptorchidism, Increased circulating IgE level, Cleft... ORPHA:373
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast... OMIM:616795
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... ORPHA:228360
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Sézary Syndrome
Erythroderma, Abnormal immunoglobulin level ORPHA:3162
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Cerebral cortical atrophy ORPHA:1164
Tuberculosis
Weight loss ORPHA:3389
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
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
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption... OMIM:607765
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata... OMIM:210000
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... OMIM:619858
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spastici... OMIM:607694
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Obesity, Decreased ... ORPHA:369837
Alveolar Echinococcosis
Cholangitis, Abdominal pain, Pancreatic cysts, Weight loss, Increased circulating antibody level,... ORPHA:284
Acrodermatitis Enteropathica
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Limb ataxia, Gait atax... OMIM:208920
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... ORPHA:144
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Glossitis ORPHA:2221
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Anal atresia, Decreased circulating antibody level OMIM:617425
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Cryptorchidism, Protein-losing enteropathy, Vomiting, Decreased l... OMIM:608104
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Hemiplegia/hemiparesis, Eosinophilia ORPHA:183
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Failure to thrive, Diarrhea OMIM:211600
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... ORPHA:91500
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Cl... OMIM:251260
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor... OMIM:128100
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... ORPHA:227990
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... ORPHA:160
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Neuroendocrine Tumor Of The Colon
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... ORPHA:100080
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... OMIM:617710
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xerostomia, Hep... ORPHA:227982
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver ORPHA:69077
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammat... ORPHA:79259
X-Linked Intellectual Disability, Cabezas Type
High palate, Decreased testicular size, Cachexia, Obesity ORPHA:85293
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Gaucher Disease Type 1
Osteoarthritis, Increased circulating antibody level, Anorexia, Abdominal pain ORPHA:77259
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss ORPHA:33276
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Spasticity ORPHA:542310
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... ORPHA:647
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Monosomy 18Q
Bilateral cryptorchidism, High palate, Failure to thrive, Slender build, Secondary growth hormone... ORPHA:1600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... ORPHA:1018
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, ... ORPHA:589821
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... ORPHA:679
Trisomy 18
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... ORPHA:97261
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Poor appetite, Anorexia, Hematemesis, Bowel urgency, Lack of bowel sounds, B... ORPHA:100075
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... ORPHA:707
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Lysinuric Protein Intolerance
Failure to thrive, Glomerulonephritis, Decreased response to growth hormone stimulation test, Dia... ORPHA:470
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Chronic diarrhea, Bone marrow hypocellularity, Failure to thrive, Oral leuk... OMIM:613989
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Weight loss, Bone marrow hypocellularity, Nausea and vomiting ORPHA:3226
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Glycogen Storage Disease Ib
Pancreatic fibrosis, Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellul... OMIM:232220
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Typhoid
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... ORPHA:99745
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter ORPHA:142
Aredyld Syndrome
Cachexia ORPHA:1133
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Hypoplasia of the thymus, Decreased lymphocyte proliferation in response to anti-CD3 OMIM:619313
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter ORPHA:1332
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... OMIM:616586
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea OMIM:176000
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97283
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain ORPHA:767
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... ORPHA:2796
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... ORPHA:100078
Poems Syndrome
Increased circulating antibody level, Increased circulating prolactin concentration, Weight loss ORPHA:2905
Incontinentia Pigmenti
Hemiplegia/hemiparesis, Spasticity, Cerebral cortical atrophy, Eosinophilia ORPHA:464
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Uveitis, Arthritis, Conju... ORPHA:36412
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Bile duct proliferation, Malabsorption OMIM:602347
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... ORPHA:100924
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Rh... ORPHA:47612
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Bile duct proliferation, St... OMIM:613812
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Nausea and ... ORPHA:97280
Huntington Disease-Like 2
Weight loss ORPHA:98934
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Decreased circulating IgA level, Feeding difficulties, Decreased circulating tota... OMIM:620005
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... ORPHA:143
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... ORPHA:330001
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... ORPHA:276152
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Abdominal pain, Erythema nodosum, Esophageal varix, Decreased circulating anti... OMIM:615688
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Chronic diarrhea, ... ORPHA:99843
Distal Deletion 19P
Cleft palate, Decreased circulating antibody level ORPHA:96129
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic de... ORPHA:83617
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... ORPHA:549
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Hypoparathyroidism, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Pitu... ORPHA:199299
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c... ORPHA:3132
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Trichohepatoenteric Syndrome 1
Villous atrophy, Failure to thrive, Small for gestational age, Decreased circulating antibody lev... OMIM:222470
Immunodeficiency 69
Diarrhea, Failure to thrive, Skin rash OMIM:618963
Schimke Immunoosseous Dysplasia
Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism, Decreased cir... OMIM:242900
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, V... ORPHA:324636
Vici Syndrome
Failure to thrive, Decreased circulating IgG2 level, Decreased T cell activation, Cleft palate, C... OMIM:242840
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Fumarase Deficiency
Failure to thrive, Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea, Decreased cir... ORPHA:247598
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Erythrokeratodermia Variabilis
Abnormal testis morphology, Skin rash, Weight loss ORPHA:317
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short hard palate, Anorexia ORPHA:1969
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... ORPHA:927
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... OMIM:168600
Cholesteryl Ester Storage Disease
Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom... OMIM:278000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Vipoma
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Malabsorption, Poor appetite, Elevated c... ORPHA:97282
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting, Goiter OMIM:231690
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Esophageal Atresia
Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc... ORPHA:1199
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer OMIM:145981
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Anor... ORPHA:99826
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria OMIM:615578
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Spasticity OMIM:308300
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Bacterial endocarditis, Cholelit... ORPHA:2072
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, D... OMIM:240300
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Smooth ton... ORPHA:79396
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Cons... ORPHA:732
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Nephroblastoma
Neoplasm of the liver, Weight loss, Abdominal pain ORPHA:654
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le... OMIM:616271
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight, Test... ORPHA:800
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation ORPHA:36397
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Diarrhea, Decreased circulating IgG level, Feeding difficulties OMIM:618278
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Atrophy of th... ORPHA:99027
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss ORPHA:1842
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... ORPHA:171876
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Intestinal obstruction, Fasciitis, Pericarditis, Skin rash, Abdominal pain, Orchitis, D... ORPHA:32960
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... ORPHA:99880
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... ORPHA:2538
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism ORPHA:449285
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Aplasia of the sweat glands,... OMIM:612132
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Erythroderma ORPHA:79456
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... ORPHA:537
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent pneumon... ORPHA:293978
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch... ORPHA:48818
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea ORPHA:99828
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia, Dystonia, Neuronal loss in central nervous system,... ORPHA:683
Stickler Syndrome
Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft palate, Uveitis, ... ORPHA:828
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Ce... OMIM:615530
Isaacs Syndrome
Weight loss ORPHA:84142
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea ORPHA:79455
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:264350
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Polycystic ovaries, Vo... ORPHA:264580
Caroli Disease
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, ... ORPHA:53035
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... ORPHA:36426
Diffuse Alveolar Hemorrhage
Weight loss, Decreased circulating complement C3 concentration, Decreased circulating complement ... ORPHA:90060
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... ORPHA:436252
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Diarrhea, Decreased circulating compleme... OMIM:235400
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Poor appetite, Erythroderma ORPHA:312
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral... OMIM:620327
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer OMIM:600740
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis ORPHA:35858
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Malnutrition, Diarrhea, Decreased body weight ORPHA:96180
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Steatorrhe... OMIM:219700
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity ORPHA:70591
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... ORPHA:99818
Cockayne Syndrome
Cachexia, Feeding difficulties in infancy, Cryptorchidism, Keratoconjunctivitis sicca, Gastroesop... ORPHA:191
Shwachman-Diamond Syndrome 2
Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreat... OMIM:617941
Galactosemia I
Diarrhea, Failure to thrive, Vomiting, Decreased liver function OMIM:230400
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema ORPHA:79242
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... OMIM:234200
Classic Galactosemia
Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure ORPHA:79239
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... ORPHA:100085
Huntington Disease-Like 2
Weight loss OMIM:606438
Carnitine Deficiency, Systemic Primary
Diarrhea, Failure to thrive, Vomiting OMIM:212140
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weigh... ORPHA:361
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... OMIM:150550
Gaucher Disease
Osteomyelitis, Abdominal pain, Feeding difficulties in infancy, Osteoarthritis, Hepatitis, Increa... ORPHA:355
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failure to thrive ORPHA:79351
Behçet Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Myositis, Increased inflammatory response, Acne... ORPHA:117
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis OMIM:217090
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Diarrhea, Abnormal testis morphology, Abdominal pain ORPHA:54251
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Gm1 Gangliosidosis
Feeding difficulties, Weight loss, Macroglossia, Gastroesophageal reflux, Aspiration pneumonia, D... ORPHA:354
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
B4Galt1-Cdg
Inflammatory abnormality of the skin, Small for gestational age, Diarrhea ORPHA:79332
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho... ORPHA:100086
Focal Myositis
Myositis, Weight loss ORPHA:48918
Bronchial Neuroendocrine Tumor
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Elevated circulating growth hormone concentrat... ORPHA:97287
Non-Functioning Paraganglioma
Weight loss, Nausea, Episodic abdominal pain ORPHA:94080
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Celiac disease, High, narrow palate, Increased circulating gonadotr... ORPHA:881
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Failure to thrive, Pancreatic fibrosis, Small for gestational age, Anorexia, Mal... OMIM:557000
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Juvenile Huntington Disease
Weight loss ORPHA:248111
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia, Recurrent otitis media OMIM:309900
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... OMIM:214500
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Pancreatic calcification ORPHA:677
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Tropical Pancreatitis
Pancreatic adenocarcinoma, Malnutrition, Pancreatic calcification, Weight loss, Chronic calcifyin... ORPHA:103918
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Wilson Disease
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... ORPHA:905
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Abdominal pain, Skin rash, Glomerulonep... ORPHA:36234
Addison Disease
Nausea and vomiting, Hypoparathyroidism, Primary testicular failure, Anorexia, Abdominal pain, Ce... ORPHA:85138
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Abdominal pain, Weight loss, Arthritis, Hepatocellular carcinoma, Testicular ... ORPHA:465508
Klatskin Tumor
Cholangiocarcinoma, Weight loss, Abdominal pain ORPHA:99978
Gaisböck Syndrome
Peptic ulcer, Overweight, Obesity, Gout, Cholecystitis ORPHA:90041
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar... OMIM:601104
Giant Cell Arteritis
Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep... ORPHA:397
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis OMIM:116920
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Hepatocellular adenoma, Increased body weight, Polycystic ovaries, Vomiting, Hepatocell... ORPHA:79240
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Episodic abdominal... ORPHA:370348
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Keratitis, Diarrhea, Failure to thrive, Goiter ORPHA:525731
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... ORPHA:93672
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Citrullinemia Type Ii
Pancreatitis, Diarrhea, Vomiting, Hepatocellular carcinoma, Decreased body mass index ORPHA:247585
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Glomerulonephritis, Abdominal pain,... ORPHA:340
Neuroblastoma, Susceptibility To, 1
Weight loss, Diarrhea, Failure to thrive, Abdominal pain OMIM:256700
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain ORPHA:405
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss ORPHA:79430
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Esophagitis, Feeding difficulties ORPHA:541423
Seckel Syndrome
Cachexia ORPHA:808
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Cleft palate OMIM:612562
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting OMIM:223900
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Recurr... ORPHA:550
Graves Disease, Susceptibility To, 1
Weight loss, Goiter OMIM:275000
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Camurati-Engelmann Disease
Feeding difficulties in infancy, Cachexia, Slender build, Anorexia ORPHA:1328
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Sinusitis, Pericarditis... ORPHA:900
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Myocarditis, Odynophagia, Fulminant hepatitis, Diarrhea, Rhin... ORPHA:319213
Follicular Lymphoma
Weight loss ORPHA:545
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... ORPHA:99921
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Malnutrition, Cachexia ORPHA:75565
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Increased body weight, Large for gestational age ORPHA:263455
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Aspiration pneumonia ORPHA:173
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Const... ORPHA:3463
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy... ORPHA:646
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Dominant Beta-Thalassemia
Hypoparathyroidism, Failure to thrive in infancy, Diarrhea, Feeding difficulties, Chronic hepatit... ORPHA:231226
Huntington Disease-Like 1
Weight loss ORPHA:157941
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy,... ORPHA:500150
Avian Influenza
Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Infectious encephalitis... ORPHA:454836
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia OMIM:607459
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia OMIM:616457
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Constipation, Esophagitis, Dysphagia ORPHA:495818
Polycythemia Vera
Gastrointestinal hemorrhage, Weight loss, Abdominal pain ORPHA:729
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma, Episodic abdominal pain, Na... ORPHA:276621
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Vomiting, Diarrhea OMIM:610768
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... ORPHA:653
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... ORPHA:49041
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Narrow palate, High palate, Vomiting OMIM:608836
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Anorexia, Weight loss ORPHA:134
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Abdominal distention, Oste... OMIM:256810
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Perry Syndrome
Weight loss ORPHA:178509
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Obesity, Weight loss ORPHA:251071
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive ORPHA:71212
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... ORPHA:97289
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Relapsing Fever
Diarrhea, Vomiting, Abdominal pain ORPHA:91547
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Feeding difficulties, Weight loss, Failure to thrive OMIM:619487
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Biotinidase Deficiency
Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Acute Promyelocytic Leukemia
Stomatitis, Weight loss, Anorexia, Abdominal pain ORPHA:520
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Esophagitis, Feeding difficulties OMIM:615356
Beta-Thalassemia Major
Hypoparathyroidism, Failure to thrive in infancy, Diarrhea, Feeding difficulties, Hepatocellular ... ORPHA:231214
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting ORPHA:20
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea OMIM:301500
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... ORPHA:79128
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Failure to thrive, Feeding difficulties ORPHA:427
Williams Syndrome
Colonic diverticula, Nausea and vomiting, Failure to thrive in infancy, Peptic ulcer, Malabsorpti... ORPHA:904
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Mucopolysaccharidosis, Type Iiid
Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media OMIM:252940
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Duodenal ulcer, Periodontitis ORPHA:722
Acute Adrenal Insufficiency
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... ORPHA:95409
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea ORPHA:454831
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... ORPHA:533
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Ovarian neoplasm,... ORPHA:744
Proximal Renal Tubular Acidosis
Diarrhea, Failure to thrive, Vomiting, Malabsorption ORPHA:47159
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... ORPHA:2331
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Weight loss, Increased body weight, Abdominal pain ORPHA:1501
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting, Atopic dermatitis ORPHA:3240
Thymic Carcinoma
Weight loss ORPHA:99868
Alg9-Cdg
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Vomiting, Hypoplasti... ORPHA:79328
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Failure to thrive ORPHA:90321
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, High palat... ORPHA:2020
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221016
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive, Impaired platelet... OMIM:241200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Osteosarcoma
Weight loss ORPHA:668
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma, Episodic abdominal pain, Na... ORPHA:29072
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221008
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis ORPHA:52417
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea OMIM:213700
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Lysinuric Protein Intolerance
Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to th... OMIM:222700
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Tracheoesophageal fistula... ORPHA:84
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... ORPHA:198
Liver Disease, Severe Congenital
Chronic gastritis, Failure to thrive, Eczema, Pneumonia, Biliary hyperplasia, Abdominal distentio... OMIM:619991
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media OMIM:608710
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, We... ORPHA:85408
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia ORPHA:96253
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Perry Syndrome
Weight loss OMIM:168605
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Dysphagia OMIM:164310
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Weight loss... ORPHA:50918
Rothmund-Thomson Syndrome
Skin rash, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Ma... ORPHA:2909
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... ORPHA:99889
Dermatomyositis
Pericarditis, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Myocarditis, Weight... ORPHA:221
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Rhinitis, Vomiting ORPHA:230
Renal Nutcracker Syndrome
Weight loss, Nausea, Abdominal pain ORPHA:71273
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss ORPHA:35687
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Colchicine Poisoning
Myocarditis, Diarrhea, Vomiting, Nausea ORPHA:31824
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Enlarged pituitary gland, Elevated circulating growth hormone concentration,... ORPHA:91347
Gitelman Syndrome
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Gout, Tubulointerstitial... ORPHA:358
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Cleft pa... OMIM:135900
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Weight loss, Testicular teratoma ORPHA:764
Ogden Syndrome
Decreased testicular size, Eczema, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties,... OMIM:300855
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysp... OMIM:606721
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive OMIM:601678
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... ORPHA:324625
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Weight loss ORPHA:79102
Mucolipidosis Type Ii
Protuberant abdomen, Weight loss, Otitis media, Gastrostomy tube feeding in infancy ORPHA:576
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... OMIM:219800
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Acute Liver Failure
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Vomiting, Nausea ORPHA:90062
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczema OMIM:617827
African Trypanosomiasis
Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Abnormal prolactin level, Optic neur... ORPHA:3385
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Weight loss ORPHA:99885
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Testicular adrenal rest tumor, Feeding difficulties, Weight loss, Vomiting, Failure to thri... ORPHA:90794
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Scorpion Envenomation
Acute pancreatitis, Abdominal pain, Myocarditis, Diarrhea, Vomiting ORPHA:466677
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... ORPHA:509
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Bronchiectasis, Weight loss ORPHA:60025
Choreoacanthocytosis
Arthritis, Weight loss, Dysphagia, Protruding tongue ORPHA:2388
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia ORPHA:740
Familial Thrombocytosis
Weight loss ORPHA:71493
Nmda Receptor Encephalitis
Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Aspartylglucosaminuria
Macroorchidism, Macroglossia, Diarrhea, Acne OMIM:208400
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Goodpasture Syndrome
Glomerulonephritis, Weight loss OMIM:233450

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 Abcb1a

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 Abcb1a.

No publications found that use IMPC mice or data for Abcb1a.

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MGI Allele Allele Type Produced
Abcb1atm387522(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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