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 (MDR/TAP), member 1A
Synonyms:
mdr-3,  Mdr1a,  P-gp,  P-glycoprotein,  Pgy-3,  Pgy3,  multiple drug resistant 1a,  MDR3,  Pgp,  Evi32

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Failure to... OMIM:615767
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Recurrent otitis media, Diarrhea, Failure to thrive, Abnorm... OMIM:618495
Masp2 Deficiency
Complement deficiency, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Failure to t... OMIM:614328
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Arthritis, Agammaglobulinemia, Frequen... OMIM:300310
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Inflammation of the large intes... OMIM:618108
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Erythroder... OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function, Recurr... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Feeding difficulties, Failure t... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Diarrhea, Failure to thrive OMIM:269840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Agammaglobulinemia 5, Autosomal Dominant
High palate, Agammaglobulinemia OMIM:613506
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Igg4-Related Aortitis
Increased circulating IgE level, Abdominal pain, Increased inflammatory response, Increased circu... ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Atopic dermatitis, Increased circulating IgE level, Recurrent bact... ORPHA:217390
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Bronchi... OMIM:618982
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Chronic diarrhea, Pneumonia, Hypo... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Decreased circulating antibody level, Co... OMIM:300635
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Failure to thr... OMIM:256500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Diarrhea, Failure to thrive OMIM:613501
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted... OMIM:209920
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Macroglossia, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Chronic di... OMIM:618523
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:609529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Protruding tongue, Diar... OMIM:242860
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Colitis, Recurrent sinusitis, Abnormal natural killer cell ... OMIM:613101
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Increased circulating IgA lev... ORPHA:343
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Decreased circulating IgG level, Sec... OMIM:600351
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Failure to thrive OMIM:617744
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lact... OMIM:223100
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... OMIM:619220
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Angiostrongyliasis
Increased circulating IgM level, Projectile vomiting, Abdominal pain, Constipation, Nausea, Gastr... ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, Colitis OMIM:615190
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Slender build, Malnutrition, Abdominal pain, Constipation, Weight l... OMIM:613662
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ... OMIM:614699
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Reticular Dysgenesis
Skin rash, Decreased circulating antibody level, Chronic otitis media, Weight loss, Diarrhea, Fai... ORPHA:33355
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Villous atrophy, Chronic diarrhea, Glomerulonephri... OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:147060
Immunodeficiency 15B
Decreased circulating antibody level, Chronic diarrhea, Agammaglobulinemia, Failure to thrive OMIM:615592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Psoriasiform de... OMIM:616100
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Abdominal pain, Chronic diarrhea, Panniculitis, Failu... OMIM:617099
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Villous atrophy, Episodic vomiting, Failure to t... OMIM:616050
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Chronic di... OMIM:617765
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis... OMIM:266600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Gastroesophageal reflux, N... ORPHA:411696
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Erythroderma, Chronic diar... ORPHA:169154
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla... OMIM:300291
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Bloody diarrhea, Anoperineal fis... OMIM:618213
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Chronic o... OMIM:606367
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Nausea, Neoplasm of the liver, Weight loss, Vomiting, Increased hepatitis B virus... ORPHA:90003
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Abnormal cerebral white matter morphology, Leukoencephalopathy, Babin... OMIM:300660
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremo... ORPHA:401840
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Agammaglobulinemia, Diarrhea, Recurrent pneumonia OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Diarrhea, Recurren... OMIM:612692
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Decreased specific antibody response to vacc... OMIM:614700
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Gastrointestinal hemorrhage, Increased circulating IgA level, In... OMIM:603909
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Abdominal pain, Nausea, Maculopapular exanthema, Incr... ORPHA:83313
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhypogammaglobulinemia,... OMIM:601457
Immunodeficiency, Common Variable, 1
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Impaired T cell function,... OMIM:607594
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Punctate keratitis, Increased circulating IgG level, Keratoconjunctivitis s... OMIM:617388
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, E... ORPHA:634
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Increased circulat... ORPHA:169160
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Fulminant hepatitis, Dysga... OMIM:308240
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Increased circulating IgG level, Chronic sinusitis, Reduced an... ORPHA:443811
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leuk... OMIM:615889
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Decreased circulating IgG level, Psoriasiform dermat... OMIM:615577
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Okur-Chung Neurodevelopmental Syndrome
Feeding difficulties, Decreased circulating antibody level, Constipation, Decreased circulating I... OMIM:617062
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Arthritis ORPHA:37748
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Nausea and vomiti... ORPHA:26790
Alpha-Heavy Chain Disease
Abdominal pain, Dysgammaglobulinemia, Abnormality of the small intestine, Malabsorption, Prematur... ORPHA:100025
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent gastroenteritis, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile r... ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Bronchiectas... OMIM:615816
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Xq28 (MECP2) duplication
Dysphagia, Constipation, Gastroesophageal reflux, Decreased circulating IgA level, Failure to thr... DECIPHER:45
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, High palate, Pneumonia OMIM:614069
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Pneumonia, Otitis media, Sinusitis OMIM:312863
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgM level, Hepatocellular carcinoma, Hepatit... ORPHA:186
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Increased circulating IgE level, Decrea... OMIM:301000
Immunodeficiency 50
Decreased circulating antibody level, Eczema OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Aplasia of the thymus, Increased circulating IgE level, Decreased circulating IgG2 level, Pneumon... OMIM:102700
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Agammaglobulinemia, D... ORPHA:33110
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Chronic diarrhea, ... OMIM:260920
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Intestinal perforation, Malnutrition, Abdominal pain, Constipation, Weight loss, C... OMIM:603041
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Increased circulating IgG level, Malar rash, Pustular rash, Failure to thrive... OMIM:615934
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Atrophy of the spinal cord, Eosinophilia ORPHA:99965
Multiple Myeloma
Decreased circulating antibody level, Weight loss, Functional abnormality of the gastrointestinal... ORPHA:29073
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Pneumonia, Recurrent cu... ORPHA:276
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglionic megacolon,... ORPHA:95427
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Obesity ORPHA:3409
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Pustule, Chronic oral candidiasis, Partial IgA deficiency, Lack of T cell function, Ch... ORPHA:35078
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Malabsorption ORPHA:1116
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash, Failure to thrive OMIM:618048
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Cer... ORPHA:101110
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Increased c... ORPHA:449432
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting, Abnormal intestine morpho... OMIM:606528
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Abnormal esophagus morphology, Pneumonia, Hepati... ORPHA:1163
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia OMIM:200900
Cronkhite-Canada Syndrome
Abdominal pain, Gastrointestinal carcinoma, Anorexia, Furrowed tongue, Stomach cancer, Intestinal... ORPHA:2930
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Diarrhea, Failure to thrive, Otitis m... OMIM:602450
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Inflammation of the large intestine, Increased circulat... ORPHA:2442
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cystic Fibrosis
Decreased circulating antibody level, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Cerebellar atrophy, Spasticity ORPHA:217012
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Agenesis of corpu... OMIM:610245
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrhea, Conjunctivitis,... OMIM:616740
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Abdominal pain, Dysphagia, Abnormality of the gastrointestinal trac... ORPHA:298
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... OMIM:616576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Chronic diarrhea, Panhypogammaglobulinemia, Pneumonia, ... OMIM:600802
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive OMIM:615285
Autoimmune Lymphoproliferative Syndrome
Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi... ORPHA:3261
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Myoclonus, Babi... OMIM:615362
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Increased serum interferon-gamma level, Decreased circulating antibody level, Erythrod... ORPHA:540
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Paraproteinemia, Feeding difficulties ORPHA:171442
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Frequent falls, Ataxia OMIM:615945
Thrombocytopenia 1
Eczema, Increased circulating IgE level, Increased circulating IgA level OMIM:313900
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic diarrhea, Chronic otitis media, Weight loss, Conjunctivit... ORPHA:47
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis OMIM:193670
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Diarrhea, Small for gestational age, Failure to thrive OMIM:614602
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Transcobalamin Ii Deficiency
Vomiting, Diarrhea, Decreased circulating IgA level, Failure to thrive, Decreased circulating tot... OMIM:275350
Insulin-Resistance Syndrome Type B
Skin rash, Enlarged ovaries, Decreased serum complement factor B, Abnormality of body weight, Abn... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron... OMIM:614576
Glutathionuria
Tremor OMIM:231950
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Immunodeficiency 76
Recurrent pneumonia, Chronic diarrhea, Colitis OMIM:619164
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Increased circulating IgE level, Chronic otitis media, Cleft palate, Eczema, Osteomyel... ORPHA:2314
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Decreased circulating antibody level, Pneumonia, Diarrhea, Vomiting, Abnormal int... OMIM:226300
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hereditary Folate Malabsorption
Glossitis, Decreased circulating antibody level, Gastroesophageal reflux, Cheilitis, Anorexia, Di... ORPHA:90045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ... OMIM:175500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity OMIM:600116
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Increased circulating in... OMIM:301220
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Inflammatory abn... ORPHA:90280
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia ORPHA:52416
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Cerebral atrophy, Abnormal pyramid... ORPHA:98762
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Conjunctivitis, En... ORPHA:448237
Caffey Disease
Increased circulating antibody level, Feeding difficulties in infancy ORPHA:1310
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Weight loss, Failure to thrive in infancy, F... ORPHA:388
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Intractable diarrhea, Arthritis OMIM:613217
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Lead Poisoning
Skin rash, Increased circulating IgE level, Abdominal cramps, Abdominal pain, Abnormality of humo... ORPHA:330015
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Bradykinesia, Action tremor, Cerebe... OMIM:300423
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
Idiopathic Achalasia
Malnutrition, Dysphagia, Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia ORPHA:930
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Feeding difficulties OMIM:612075
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Atopic dermatitis, Feeding difficulties OMIM:615846
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenitis, ... ORPHA:331206
Wolman Disease
Malnutrition, Steatorrhea, Esophageal varix, Cachexia, Hepatic failure, Nausea and vomiting, Abdo... ORPHA:75233
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Chronic hepatitis due to cryptosporidium infection, Abnormality of humoral immunity, L... ORPHA:572
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Protuberant abdomen, Lactose intolerance, Decreased circulating IgA level, Intest... ORPHA:457485
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Neuronal loss... OMIM:615924
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Eosinophilia OMIM:243700
Immunodeficiency 19
Recurrent otitis media, Diarrhea, Failure to thrive OMIM:615617
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Villous atrophy, Malnutrition, Abnormal intestine morphology OMIM:251850
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Hyperintensity of cereb... ORPHA:521406
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Hypermanganesemia With Dystonia 2
Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski ... OMIM:617013
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons... ORPHA:314632
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Aicardi-Goutieres Syndrome 6
Tremor, Hemolytic anemia, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Interstitial pneumonitis, Decreased circulating antibody level... OMIM:615952
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite OMIM:201100
Celiac Disease, Susceptibility To, 1
Abdominal pain, Thyroiditis, Stomatitis, Steatorrhea, Weight loss, Diarrhea, Decreased circulatin... OMIM:212750
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abdominal pain, Weight loss, Cachexia, Ileus, Testicular neoplasm, Nausea and v... ORPHA:83469
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Cachexia, Malabsorption, Duodenal ulcer ORPHA:3217
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Arthritis, Acne, Sterile arthritis OMIM:604416
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Diarrhea, Failure to thrive, Vomiting OMIM:615863
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Perianal abscess... OMIM:618935
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Primary Intestinal Lymphangiectasia
Abdominal pain, Decreased circulating antibody level, Weight loss, Diarrhea, Ileus, Failure to th... ORPHA:90362
Halothane Hepatitis
Eosinophilia OMIM:234350
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Neur... OMIM:300894
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Osteomyelitis, Bronchiectasis, Recurrent infection of the... OMIM:608184
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Cerebellar atrophy, Babinski sign, Spasticity OMIM:615768
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Global brain atrophy, Bradykinesia, Frontotemporal cerebral atrophy,... OMIM:612953
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Cerebral cortical atrophy, Progressive cerebellar... OMIM:604326
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Abnormality... ORPHA:449563
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Gastroesophageal reflux, Panhypogammaglobulinemia, Feeding difficulties ORPHA:251009
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Ulcerative co... ORPHA:171
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Brucellosis
Pericarditis, Pneumonia, Weight loss, Anorexia, Increased circulating IgG level, Small for gestat... ORPHA:1304
Immunodeficiency 59 And Hypoglycemia
Acne inversa, Arteritis, Decreased circulating antibody level, Stomatitis, Diarrhea, Encephalitis... OMIM:233600
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Christianson Syndrome
Dysphagia, Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia ORPHA:85278
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria OMIM:607458
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Testicular atrophy OMIM:618165
Syndromic Diarrhea
Villous atrophy, Panhypogammaglobulinemia, Colitis, Hypoplasia of the thymus, Small for gestation... ORPHA:84064
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Epididymitis, Increased serum interferon-gamma level, Protuberant abdomen, Increase... OMIM:256040
Trichinellosis
Skin rash, Increased circulating IgE level, Dysphagia, Nausea, Conjunctivitis ORPHA:863
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreoathetosis OMIM:261630
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Immunodeficiency 52
Decreased circulating antibody level, Bronchiectasis, Failure to thrive, Recurrent pneumonia OMIM:617514
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Glomerulonephritis, Complete or near-complete absence of... OMIM:613496
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Intestinal perforation, Intussusception, Abdominal pain, Colonic sten... ORPHA:90038
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Weight loss, Protracted diarrhea, Diarr... ORPHA:67
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Spasticity OMIM:618092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Eosinophilia OMIM:253600
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Dysphagia, Nausea, Abnormality of serum cytokine level... ORPHA:297
Leishmaniasis
Increased circulating antibody level, Rhinitis, Weight loss, Anorexia ORPHA:507
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Decreased circulating IgA level OMIM:215250
Lipodystrophy, Congenital Generalized, Type 4
Feeding difficulties, Dysphagia, Constipation, Decreased circulating IgA level, Ileus, Failure to... OMIM:613327
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Parkinsoni... ORPHA:306692
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Malabsorption, Recurrent skin infections, Arthritis ORPHA:90363
Renpenning Syndrome
Anal atresia, Cachexia, Cleft palate, Decreased testicular size, High, narrow palate ORPHA:3242
Majeed Syndrome
Pustule, Synovitis, Weight loss, Abnormal inflammatory response, Cachexia, Failure to thrive, Mal... ORPHA:77297
Shigellosis
Acute colitis, Paralytic ileus, Peritonitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Clonus, Spastic ataxia, Chorea, Abnormal cerebral white matter morphology, C... ORPHA:397946
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb spastici... OMIM:600363
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Weight loss, Psori... ORPHA:324964
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Waldenström Macroglobulinemia
Cryoglobulinemia, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Anorexia,... ORPHA:33226
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Enlarged lacrimal glands, ... OMIM:181000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Neuro... OMIM:615157
Immunodeficiency 43
Decreased circulating IgG level, Bronchiectasis OMIM:241600
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Cerebellar atrophy, Ataxia OMIM:617917
Roifman Syndrome
Hypoplasia of the corpus callosum, Hippocampal atrophy, Microcephaly, Hepatosplenomegaly, Eosinop... ORPHA:353298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Cryptorchidism, Agammaglobulinemia OMIM:616910
Pfapa Syndrome
Abdominal pain, Weight loss, Encephalitis, Nausea and vomiting, Malabsorption, Arthritis ORPHA:42642
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Myocl... ORPHA:98763
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Uveitis, Anorexia, Diarrhea, Cachexia,... ORPHA:3452
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cor... ORPHA:33445
Riboflavin Transporter Deficiency
Dysphagia, Cachexia ORPHA:97229
Angioedema, Hereditary, 8
Episodic vomiting, Diarrhea, Abdominal pain OMIM:619367
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Increased circulating IgM level, Recurrent pneumonia, Bone marrow hypocellularity, ... OMIM:617303
Good Syndrome
Bronchiectasis, Dysphagia, Decreased circulating antibody level, Diarrhea, Sinusitis, Recurrent s... ORPHA:169105
Lambert Syndrome
Decreased circulating antibody level, Failure to thrive in infancy ORPHA:1296
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Igg4-Related Pachymeningitis
Lymphadenitis, Dysphagia, Increased circulating IgG4 level, Complement deficiency, Pancreatitis, ... ORPHA:449427
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the... ORPHA:2070
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Bloom Syndrome
Cryptorchidism, Bronchiectasis, Malar rash, Small for gestational age, Decreased circulating IgA ... OMIM:210900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy OMIM:618387
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hypoplasia of the corpus callosum, Cerebellar atrophy, Dysmetria, Rigidity OMIM:618090
Immunodeficiency 31C
Villous atrophy, Diarrhea, Chronic mucocutaneous candidiasis, Eczema, Abnormal intestine morphology OMIM:614162
Smith-Kingsmore Syndrome
Cryptorchidism, Large for gestational age, Decreased circulating IgA level, Feeding difficulties OMIM:616638
X-Linked Creatine Transporter Deficiency
Constipation, Aganglionic megacolon, Cachexia, Ileus ORPHA:52503
Bloom Syndrome
Poor appetite, Skin rash, Recurrent gastroenteritis, Decreased circulating antibody level, Gastro... ORPHA:125
Behr Syndrome
Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C... OMIM:615559
Tetrasomy 12P
Anal atresia, Cachexia, Abnormal soft palate morphology ORPHA:884
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Brain atrophy... ORPHA:79263
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Chronic diarrhea, Pyoderma, Failure... OMIM:242700
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cerebral cortical hemiatrophy, Di... ORPHA:306669
Wolfram Syndrome 2
Decreased circulating antibody level, Gastric ulcer, Impaired collagen-induced platelet aggregation OMIM:604928
Immunodeficiency 36
Decreased circulating antibody level, Chronic diarrhea, Bronchiectasis OMIM:616005
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Abdominal cramps, Abdomina... ORPHA:98850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar... OMIM:307200
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Icf Syndrome
Protruding tongue, Decreased circulating antibody level, Macroglossia, Malabsorption ORPHA:2268
Combined Oxidative Phosphorylation Deficiency 45
Abnormal cerebral white matter morphology, Tremor, Ataxia OMIM:618951
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased liver function OMIM:301045
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Tremor, Ataxia, Spasticity OMIM:278780
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Myotonic Dystrophy 2
Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:602668
Prolidase Deficiency
Increased circulating antibody level, Crusting erythematous dermatitis, Failure to thrive, Recurr... OMIM:170100
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Splenomegaly, Frequent falls, Spasticity OMIM:616719
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Decreased serum complement C3, Paraproteinemia, Decreas... ORPHA:329918
Sepsis In Premature Infants
Decreased body weight, Increased circulating interleukin 6, Functional abnormality of the gastroi... ORPHA:90051
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Bone marrow hypocellularity, Eczema OMIM:618116
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Cerebe... OMIM:617435
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Chronic diarrhea, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Failure to thrive... OMIM:613385
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Diarrhea, Abdominal distention ORPHA:103910
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Abnormal pyram... OMIM:617225
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Spasticity OMIM:300983
Thymic Tumor
Dysphagia, Dysgammaglobulinemia, Pericarditis ORPHA:100100
Wells Syndrome
Eosinophilia ORPHA:901
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Diarrhea, Abn... ORPHA:263665
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased circulating antibody level, Septic arthritis, Recurrent pneumonia, Vomiting, Eczema OMIM:617780
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Glucose/Galactose Malabsorption
Chronic diarrhea, Hyperactive bowel sounds, Failure to thrive, Malabsorption, Abdominal distention OMIM:606824
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Riddle Syndrome
Recurrent pneumonia, Abdominal pain, Recurrent sinusitis, Pneumonia, Weight loss, Diarrhea, Decre... ORPHA:420741
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Mulibrey Nanism
Cachexia ORPHA:2576
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Diarrhea OMIM:609313
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in substantia nigr... ORPHA:329284
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Vici Syndrome
Feeding difficulties, Decreased circulating IgG2 level, High palate, Feeding difficulties in infa... ORPHA:1493
Trichothiodystrophy 1, Photosensitive
Erythroderma, Chronic diarrhea, Keratoconjunctivitis sicca, Small for gestational age, Decreased ... OMIM:601675
Tularemia
Skin rash, Cutaneous abscess, Increased circulating antibody level, Pneumonia, Conjunctivitis, In... ORPHA:3392
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Roifman Syndrome
Microcephaly, Eosinophilia, Splenomegaly OMIM:616651
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Anorexia, Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Failure to thrive, Co... OMIM:618999
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di... OMIM:619279
Neuropathy, Congenital Hypomyelinating, 3
High palate, Gastroesophageal reflux, Cachexia OMIM:618186
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Caribbean Parkinsonism
Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness due to upp... ORPHA:97355
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Diarrhea, Inflammatory abnormality of the eye, Failure to thrive, Sinusitis... ORPHA:229717
Cryptosporidiosis
Gastrointestinal obstruction, Abdominal pain, Dysphagia, Abdominal colic, Nausea, Abnormal esopha... ORPHA:1549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Pneumonia, Diarrhea, Eczema, Otitis media OMIM:608971
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Chronic oral candidiasis, Decreased circulating total IgM, Decreased sp... ORPHA:221139
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Immunodeficiency 49
Lymphopenia, Spastic tetraplegia, Eosinophilia OMIM:617237
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Intussusception, Gastrointestinal infarctions, Abdominal c... ORPHA:544482
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Increased circulating IgM level, Recurrent gastroenteritis, Conjunctivitis, Decreas... ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus OMIM:618587
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure