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,  P-glycoprotein,  P-gp,  MDR3,  Pgy-3,  Mdr1a,  Pgy3,  Evi32,  multiple drug resistant 1a,  Pgp

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
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenit... OMIM:614328
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis OMIM:618985
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... OMIM:619281
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract OMIM:137100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
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 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased... OMIM:618108
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... OMIM:300310
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Reduced delaye... OMIM:617241
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infection of the gast... OMIM:605258
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Diar... ORPHA:277
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral... OMIM:300400
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta... OMIM:618982
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Complement deficiency, Intestinal obstructi... ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Macroglossia, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increa... OMIM:618523
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou... OMIM:256500
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr... OMIM:209920
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Tube feeding, Decreased circulating IgG level, Oligoarthritis, D... OMIM:619510
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:609529
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Diarrhea, Failure to thrive, Recurrent otitis media OMIM:613501
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Agammaglobulinemia 5, Autosomal Dominant
High palate, Agammaglobulinemia OMIM:613506
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Increased circulating IgM level, Increased circulating IgG level, Recurrent otiti... OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Malabsorption, Sinusitis, Macroglossia, Diarr... OMIM:242860
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... OMIM:243700
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:607271
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Arthritis, Intestinal obs... ORPHA:343
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Colitis, Decreased circulating antibody level, Recurrent... OMIM:613101
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... ORPHA:555905
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 14A, Autosomal Dominant
Bronchiectasis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level,... OMIM:615513
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec... OMIM:600351
Immunodeficiency 27A
Anorexia, Diarrhea, Increased circulating IgG level, Increased inflammatory response, Increased c... OMIM:209950
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Angiostrongyliasis
Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea OMIM:615592
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulatin... ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... OMIM:308230
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneum... OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chro... OMIM:304790
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ... OMIM:618213
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Episodic vomiting, Reduced natural killer cell activ... OMIM:616050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619752
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Abdominal pain, Skin rash, Diarrhea, Increased circulating IgM l... OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In... OMIM:618048
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Feeding difficulties, Pyloric stenosis, Bilat... OMIM:616395
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Diarrhea, Panhypogammaglobulinemia, Pneumonia OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:619824
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... ORPHA:411696
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level,... OMIM:618495
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody... ORPHA:90003
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Lymphangiectasia, Intestinal
Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia OMIM:152800
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
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... OMIM:243150
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection ORPHA:2688
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Aplasia of the eccrine sweat gla... OMIM:300291
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Recurr... OMIM:614700
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 58
Bronchiectasis, Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, ... OMIM:618131
Netherton Syndrome
Malabsorption, Skin rash, Eczema, Decreased circulating antibody level, Erythroderma, Increased c... ORPHA:634
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Boutonneuse Fever
Abdominal pain, Skin rash, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, Na... ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Nephritis, Malar rash, Increased circulating IgG level, Decrease... OMIM:603909
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Abdominal pain, Complement deficiency, Monoclonal elevation of circul... ORPHA:91139
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss, Abnormality of the gastrointestinal tract, Atopic d... ORPHA:2902
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level ORPHA:99811
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia... OMIM:601457
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:613500
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Uveitis, Pun... OMIM:617388
Lassa Fever
Abdominal pain, Diarrhea, Increased circulating IgM level, Dysphagia, Nausea and vomiting, Conjun... ORPHA:99824
Pgm3-Cdg
High palate, Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomy... ORPHA:443811
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio... OMIM:617744
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ... ORPHA:2137
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Okur-Chung Neurodevelopmental Syndrome
High palate, Failure to thrive, Decreased circulating IgA level, Constipation, Decreased circulat... OMIM:617062
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... ORPHA:26790
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... OMIM:619802
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... ORPHA:37042
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level OMIM:270300
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine, Dysgammaglobulinemia, Abdominal pain ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatic failure, Fulminant hepatitis, Reduced natural killer cel... OMIM:308240
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... 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
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feedin... DECIPHER:45
Immunodeficiency 23
High palate, Failure to thrive, Eczema, Membranoproliferative glomerulonephritis, Increased circu... OMIM:615816
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis 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
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Chronic oral candi... ORPHA:275
Primary Biliary Cholangitis
Increased circulating IgA level, Abdominal distention, Hepatic failure, Hepatocellular carcinoma,... ORPHA:186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Decreased circulating antibody level, Pneumonia OMIM:614069
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Immunodeficiency 88
Eosinophilia OMIM:619630
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ... OMIM:301000
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Otitis media, Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Chro... OMIM:602450
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusit... OMIM:102700
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:616005
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Multiple Myeloma
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... ORPHA:29073
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... ORPHA:33110
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Increased circulating IgE level ORPHA:3409
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Tremor, Fasciculations, Eosinophilia ORPHA:99965
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG... OMIM:615934
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... ORPHA:2198
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circulating IgM leve... ORPHA:448237
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co... ORPHA:449432
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Skin rash, Increased c... OMIM:260920
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Decreased circulating antibody level ORPHA:1116
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Abnormal esophagus morphology, Hepatitis, Infectious encepha... ORPHA:1163
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... OMIM:619705
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Decreased circu... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Cronkhite-Canada Syndrome
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Cachexia, Diarrhea, Furrowed tongue, Int... ORPHA:2930
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... OMIM:614602
Cystic Fibrosis
Malabsorption, Decreased circulating antibody level, Exocrine pancreatic insufficiency ORPHA:586
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, Pneumonia, Weight loss, Colitis, Osteomyelitis, Decreased circulat... OMIM:619381
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Babinski sign, Tremor OMIM:300660
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... OMIM:619924
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrh... OMIM:616740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus OMIM:200900
Thymoma
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo... ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
X-Linked Lymphoproliferative Disease
Decreased liver function, Decreased circulating IgA level, Colitis, Decreased circulating IgG lev... ORPHA:2442
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E... OMIM:615607
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... ORPHA:48435
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Feeding difficulties, Paraproteinemia ORPHA:171442
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... ORPHA:1876
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... OMIM:610245
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Cerebellar atrophy OMIM:615945
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Panhypogammaglobul... OMIM:600802
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho... OMIM:606528
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio... OMIM:614576
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM OMIM:615139
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli... ORPHA:3261
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody ... OMIM:601495
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Chronic otit... ORPHA:47
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Decreased circulating ... OMIM:226300
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... OMIM:616576
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... ORPHA:79078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... OMIM:175500
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Decreased serum complement factor B, Neph... ORPHA:2298
Glutathionuria
Tremor OMIM:231950
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C... OMIM:614860
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... OMIM:603041
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Abdominal pain, Sk... OMIM:301074
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Lead Poisoning
Abdominal cramps, Constipation, Abdominal distention, Abdominal pain, Skin rash, Anorexia, Small ... ORPHA:330015
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:275350
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Cleft palate, Skin rash, Eczema, Chronic otitis media, Increased circulating IgE l... ORPHA:2314
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Diarrhea 9
Failure to thrive, Villous atrophy, Diarrhea OMIM:618168
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Hereditary Folate Malabsorption
Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Glossitis, Decreased c... ORPHA:90045
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss OMIM:612075
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Mantle Cell Lymphoma
Anorexia, Weight loss, Abnormality of the gastrointestinal tract ORPHA:52416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,... OMIM:301220
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Cerebellar atrophy OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremor, Cerebellar atrophy, Abnormali... OMIM:615362
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss ORPHA:930
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... ORPHA:90280
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Decreased circulating IgA level, Intussusception, Decreased c... ORPHA:90363
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Agammaglobulinemia, X-Linked
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... OMIM:300755
Ebola Hemorrhagic Fever
Melena, Increased circulating antibody level, Abdominal pain, Maculopapular exanthema, Diarrhea, ... ORPHA:319218
Wolman Disease
Abdominal distention, Hepatic failure, Steatorrhea, Cachexia, Esophageal varix, Malnutrition, Nau... ORPHA:75233
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... ORPHA:388
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy OMIM:613217
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Decreased circulatin... OMIM:620040
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Igg4-Related Kidney Disease
Pancreatitis, Complement deficiency, Decreased serum complement C4, Lymphadenitis, Chronic sinusi... ORPHA:449395
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Immunodeficiency 104
Gastroesophageal reflux, Otitis media, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Pneum... OMIM:608971
Rift Valley Fever
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hepatitis, Uveitis, In... ORPHA:319251
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:572
Isolated Congenital Hypoglossia/Aglossia
Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i... ORPHA:141152
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Intestinal polyp, Large for gestational age, Cryptorchidism, Pro... ORPHA:457485
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Immunodeficiency 19
Failure to thrive, Diarrhea, Recurrent otitis media OMIM:615617
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea ORPHA:3217
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... ORPHA:98762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu... ORPHA:331206
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Abdominal distention, Ovarian neoplasm, Abdominal pain, Cachexia... ORPHA:83469
Brucellosis
Vomiting, Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Pericarditis, Weight loss, A... ORPHA:1304
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Eczema, Interstitial pneumonitis, Decreased circulating antibo... OMIM:615952
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... ORPHA:521406
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... OMIM:618935
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid OMIM:613291
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Halothane Hepatitis
Eosinophilia OMIM:234350
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Sialadenitis, Orchitis, Pancreatitis, Prostatitis, Increased circulating Ig... ORPHA:449563
Spinocerebellar Ataxia 12
Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni... OMIM:604326
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormality of extrapyramidal motor function... OMIM:300894
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Impaired Ig class switch recombination, Recurrent infection of the... OMIM:608184
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Panhypogammaglobulinemia ORPHA:251009
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator... OMIM:212750
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi... ORPHA:64744
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Immunodeficiency 52
Bronchiectasis, Failure to thrive, Decreased circulating antibody level, Recurrent pneumonia OMIM:617514
Primary Sclerosing Cholangitis
Cholelithiasis, Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreati... ORPHA:171
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Intestinal atresia, Cachexia ORPHA:93941
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Christianson Syndrome
Dysphagia, Cachexia, Gastroesophageal reflux, Feeding difficulties in infancy ORPHA:85278
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Cerebellar atrophy OMIM:615768
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting OMIM:616809
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... ORPHA:90038
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Trichinellosis
Skin rash, Nausea, Dysphagia, Increased circulating IgE level, Conjunctivitis ORPHA:863
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa,... OMIM:233600
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia OMIM:607458
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Bone Marrow Failure Syndrome 5
Testicular atrophy, Decreased circulating antibody level OMIM:618165
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... ORPHA:67
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, C... ORPHA:77297
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... OMIM:615237
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Decreased specific pneumococcal antibody level, Complete or near-complete abs... OMIM:613496
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Cachexia, Decreased testicular size ORPHA:3242
Leishmaniasis
Anorexia, Increased circulating antibody level, Weight loss, Rhinitis ORPHA:507
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni... OMIM:614379
Waldenström Macroglobulinemia
Malabsorption, Anorexia, Cryoglobulinemia, Diarrhea, Gastrointestinal hemorrhage, Monoclonal immu... ORPHA:33226
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Spasticity OMIM:618092
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Failure to thrive, Malabsorption, Diarrhea OMIM:229050
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Pfapa Syndrome
Malabsorption, Abdominal pain, Arthritis, Weight loss, Infectious encephalitis, Nausea and vomiting ORPHA:42642
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin... OMIM:181000
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Tick-Borne Encephalitis
Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve... ORPHA:297
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... OMIM:619445
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Whipple Disease
Malabsorption, Abdominal pain, Anorexia, Cachexia, Diarrhea, Myositis, Myocarditis, Arthritis, Uv... ORPHA:3452
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Small for gestational age OMIM:215250
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ... ORPHA:363654
Shigellosis
Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi... ORPHA:810
Riboflavin Transporter Deficiency
Dysphagia, Cachexia ORPHA:97229
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Clumsiness OMIM:253600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Aganglionic megacolon, Cachexia ORPHA:52503
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Tremor, Spastic paraplegia, Clon... OMIM:600363
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology ORPHA:884
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Macroglossia, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypoce... OMIM:617303
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... ORPHA:2070
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... ORPHA:449427
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ve... ORPHA:306669
Immunodeficiency 31C
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology OMIM:614162
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level OMIM:616910
Glut1 Deficiency Syndrome 2
Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosi... OMIM:612126
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... ORPHA:331235
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... ORPHA:79263
Lambert Syndrome
Decreased circulating antibody level, Failure to thrive in infancy ORPHA:1296
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Abnormal mast cell morphology, Abdomin... ORPHA:98850
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Malabsorption, Eczematoid dermatitis, ... ORPHA:83471
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level OMIM:241600
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Cryptorchidism, Large for gestational age, Feeding difficulties OMIM:616638
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Cerebellar atrophy OMIM:210000
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Decreased circulating antibody level, Bronchiecta... ORPHA:169105
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Gastric ulcer OMIM:604928
Neuropathy, Congenital Hypomyelinating, 3
High palate, Cachexia, Gastroesophageal reflux OMIM:618186
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Bloom Syndrome
Recurrent gastroenteritis, Esophageal neoplasm, Neoplasm of the colon, Decreased circulating IgA ... ORPHA:125
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Decreased circulating antibody level OMIM:301045
Prolidase Deficiency
High palate, Increased circulating antibody level, Failure to thrive, Eczema, Crusting erythemato... OMIM:170100
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased liver function, Decreased body weigh... ORPHA:90051
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Decreased circulating IgA level, Failure to thrive, Constipation, Feeding difficulties, Py... OMIM:613327
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Gastroesophageal reflux, Feeding difficulties in infancy, Hepati... OMIM:613385
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Icf Syndrome
Malabsorption, Decreased circulating antibody level, Protruding tongue, Macroglossia ORPHA:2268
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... ORPHA:329918
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Thymic Tumor
Dysphagia, Pericarditis, Dysgammaglobulinemia ORPHA:100100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis OMIM:617780
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:616719
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Decreased serum complement C4, Diarrhea, Vomiting, Decreased ci... OMIM:106100
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Tremor, S... ORPHA:33445
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis OMIM:619693
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria, Cerebellar atrophy OMIM:617917
Laryngeal Neuroendocrine Tumor
Anorexia, Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia ORPHA:100083
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Mulibrey Nanism
Cachexia ORPHA:2576
Glucose/Galactose Malabsorption
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Wells Syndrome
Eosinophilia ORPHA:901
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumo... ORPHA:229717
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Pneumonia, Cutaneo... ORPHA:3392
Diencephalic Syndrome