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Gene: Lig4 MGI:1335098

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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:
ligase IV, DNA, ATP-dependent
Synonyms:
5830471N16Rik,  tiny,  DNA ligase IV

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lig4 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 predicted to be associated to Lig4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm... OMIM:269840
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Autoimmunity, ... OMIM:609529
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Autoimmunity, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarg... OMIM:616005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Chronic diarrhea, Bro... OMIM:618394
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation... OMIM:620210
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhe... OMIM:619510
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pne... ORPHA:169160
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Hepatomegaly, Psoriasiform dermatit... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Growth delay, Decreased circulating to... OMIM:614069
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Abnormality of chromosome stability, Short stature, D... ORPHA:100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, C... ORPHA:3261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Autoimmunity, Verrucae, Recurrent aphthou... ORPHA:275
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Nijmegen Breakage Syndrome
Sinusitis, T lymphocytopenia, Premature ovarian insufficiency, Short stature, Medulloblastoma, Br... OMIM:251260
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Autoimmunity, Absence of lymp... ORPHA:277
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... OMIM:615767
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiecta... ORPHA:397596
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ... OMIM:102700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... OMIM:243700
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko... OMIM:242880
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha... OMIM:605258
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Immunodeficiency 54
Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder, Short stature, Postnatal growth ... OMIM:609981
Bloom Syndrome
Poor appetite, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, ... ORPHA:125
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Immunodeficiency 22
Failure to thrive, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Diarrhea, Protracted di... OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent c... ORPHA:47
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Disseminated ... ORPHA:90362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, ... OMIM:242860
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG level, Short st... OMIM:208900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A... OMIM:300310
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Dec... OMIM:215250
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total Ig... OMIM:619774
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... OMIM:618282
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Autoimmunity, Portal hypertension, Gast... OMIM:613385
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... OMIM:615607
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Lymphocytic interstit... OMIM:618495
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, Chromosomal breakage induced by crosslinking agents, T-cel... OMIM:605724
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Anorexia, Splenomegaly, L... OMIM:209950
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice... ORPHA:381
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:158061
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Hepatiti... ORPHA:33110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmunity, Autoimm... OMIM:614470
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Bone marrow hypocellularity, Chromosomal breakage induced by cro... OMIM:609054
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Immunoglobulin A Deficiency 1
Malabsorption, Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circula... OMIM:137100
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmuni... OMIM:613011
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Decreased circulatin... ORPHA:33355
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Iron deficiency anemia... ORPHA:37042
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Short stature, Feeding difficulties, Decreased circulating antibody le... OMIM:617744
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Chromosomal breakage induc... OMIM:616435
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... OMIM:619632
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Vomiting, Short stature, Abdominal pain, Delayed puberty, Elevated hepati... OMIM:212750
Fanconi Anemia, Complementation Group N
Aplastic anemia, Nephroblastoma, Postnatal growth retardation, Medulloblastoma, Neuroblastoma, Ch... OMIM:610832
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Icf Syndrome
Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Protruding tongue... ORPHA:2268
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... ORPHA:100024
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Anemia, Growth delay, Neutropenia, Leukemia,... OMIM:614082
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Intestinal lymphedema,... ORPHA:90363
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Decreased testicular size, Short stature, Decreased circulating ... OMIM:620040
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circula... ORPHA:37748
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Q Fever
Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystitis, Lupus anticoagulan... ORPHA:781
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Autoi... OMIM:617780
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Adenocarcinoma of... ORPHA:124
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Neutropenia, Decreased circulating IgG leve... OMIM:193670
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth del... OMIM:619164
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... OMIM:615577
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... OMIM:620005
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stabilit... OMIM:600546
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Anal fissure, Eczema, ... OMIM:618935
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Cryptorchidism, Feeding difficulties, Thrombocytopenia, De... OMIM:616638
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Antiphospholipid antibody positivity, Rheumatoid factor positive, Myositis, Sk... OMIM:615934
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone... OMIM:618116
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ... OMIM:616740
Roifman Syndrome
Short stature, Eosinophilia, Eczema, Hypogonadotropic hypogonadism, Postnatal growth retardation,... ORPHA:353298
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Ce... OMIM:615952
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature, Bronchiectasis OMIM:615139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Dysphagia, Failure to thr... DECIPHER:45
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Thymoma
Myositis, Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Anti-acetylc... ORPHA:99867
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
N Syndrome
Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Eczema, Short stature... OMIM:617052
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Viral hepatitis, Membrano... ORPHA:91139
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Increased circulating IgM level, Monocy... ORPHA:2688
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... OMIM:307200
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Increased c... ORPHA:1163
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Abdominal... OMIM:617099
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Pyloric stenosis, Ileus, Recurrent pne... OMIM:613327
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Short stature, Increased circulating IgA level, Bilateral cryptor... OMIM:616395
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Feeding difficulties, Growth delay, Gastroesophageal r... ORPHA:251009
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymph... ORPHA:83313
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, My... ORPHA:549
Dubowitz Syndrome
Aplastic anemia, Eczema, Short stature, Feeding difficulties in infancy, Cryptorchidism, Velophar... OMIM:223370
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... OMIM:615190
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Hemangiom... OMIM:112200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel... OMIM:613179
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature, Narrow palate, Breast carcinoma, Ovarian neoplasm, Ovarian ca... OMIM:617883
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatomegaly, Villous atrophy, Pericarditis, Elevated hepatic tr... OMIM:212065
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D... OMIM:612301
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... OMIM:242700
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating ... OMIM:619750
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Malabsorption, Cryptorchidism, L... ORPHA:99812
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Skin rash, Short stature, Reduced natural kille... OMIM:616050
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Impaired Ig class switch recombinatio... OMIM:608184
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:619767
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumo... ORPHA:420741
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Autoimmunity, Cholangitis, Por... ORPHA:228426
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Neutropenia, Bone marrow hy... OMIM:609053
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Chro... OMIM:616433
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Hemangioma, ... ORPHA:457485
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ... OMIM:615816
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... OMIM:260920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Rhizomelia, Cryptorchidism, Patent du... OMIM:607143
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, ... OMIM:615272
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Thrombocy... OMIM:227645
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28, Abnormal pons morphology, Elevated circulating growth horm... ORPHA:85327
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... OMIM:614576
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdomi... OMIM:615688
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcino... OMIM:158350
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Chromosome breakage OMIM:613390
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Brain neoplasm, Metrorrhagia, Anorexia, Abdominal ... ORPHA:370348
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota... OMIM:613496
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Growth delay, Anemia, Bone marrow hypocellul... OMIM:617244
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... ORPHA:449400
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Thrombocy... OMIM:227646
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Medulloblastoma
Nausea and vomiting, Elevated hepatic transaminase, Adenomatous colonic polyposis, Medulloblastom... ORPHA:616
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Short stature, Minimal change glomerulonephritis, Decrease... ORPHA:1830
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Brucellosis
Liver abscess, Rheumatoid factor positive, Anorexia, Knee osteoarthritis, Increased circulating I... ORPHA:1304
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... ORPHA:74
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:606056
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intestinal ... ORPHA:79324
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Cutan... ORPHA:79405
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Me... ORPHA:319251
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... OMIM:170100
Insulin-Resistance Syndrome Type B
Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Abnormal sali... ORPHA:2298
Bohring-Opitz Syndrome
Short stature, Feeding difficulties in infancy, Medulloblastoma, Annular pancreas, Cleft palate, ... ORPHA:97297
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Mirage Syndrome
Short stature, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Esophageal strictu... OMIM:617053
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Cutan... ORPHA:79406
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growt... ORPHA:293978
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Circulating immune co... ORPHA:91138
Immunodeficiency 56
Cholangitis, Hepatic failure, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogamma... OMIM:615207
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, S... OMIM:617591
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypog... OMIM:227650
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Erythroderma,... OMIM:617425
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Lambert Syndrome
Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah... ORPHA:1296
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Cutan... ORPHA:79411
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato... ORPHA:217260
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Elevated hepatic transaminase, E... ORPHA:400
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Cryptorch... OMIM:600901
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic diar... OMIM:618131
Spondyloenchondrodysplasia
Enchondroma, Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Autoimmunity, Decreased respon... ORPHA:1855
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Monosomy 18Q
Astrocytoma, Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Growth delay, Hig... ORPHA:1600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulat... OMIM:226300
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Nausea and vomiting, Premature ovarian ... ORPHA:199299
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Conjun... ORPHA:454836
Fanconi Anemia, Complementation Group L
Chromosome breakage, Esophageal atresia, Chromosomal breakage induced by crosslinking agents, Tra... OMIM:614083
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hepatosplenomeg... ORPHA:231226
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Aganglionic megacolon, Rhizomelia, Malabsorpti... ORPHA:175
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, V... ORPHA:448237
Netherton Syndrome
Decreased circulating IgG level, Villous atrophy, Recurrent skin infections, Eczema, Allergic rhi... OMIM:256500
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Patent ductus arteriosus, Feeding difficulties, Decreased ... OMIM:618162
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e... ORPHA:411593
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cho... OMIM:607765
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cholestasis, Ane... ORPHA:292
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Gastroparesis, Red... ORPHA:79329
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Cryptorchidism, Chromosomal breakage induced by crosslinking agents,... OMIM:613951
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:66628
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Incr... OMIM:617303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... ORPHA:158057
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Esophageal ... OMIM:300514
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:179494
Postinfectious Vasculitis
Rheumatoid factor positive, Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal inf... ORPHA:48435
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Patent ductus arteriosus, Nasogastric tube feeding in in... ORPHA:369837
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Growth ... OMIM:248500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Intrauterine growth retardation, Decreased circulating antibo... OMIM:616910
Myotonic Dystrophy 2
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... OMIM:602668
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma, Functional intestinal obstruction ORPHA:199276
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Cachexia, ... ORPHA:647
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis... ORPHA:77259
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Intestinal malrotation, Abdom... ORPHA:436252
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Failure to thriv... OMIM:610377
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Recurrent bacterial skin infec... ORPHA:101330
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Severe... ORPHA:440713
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Short stature, Abdominal pain, Feeding difficulties in... ORPHA:355
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neo... ORPHA:723
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Chronic diarrhea, R... OMIM:614379
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... OMIM:616744
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Defective DNA repair af... OMIM:278760
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Low... OMIM:201100
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Postnatal growth retardation, De... OMIM:242840
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cleft palate, Decreased circulating antibody level ORPHA:85317
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Hennekam Syndrome
Benign neoplasm of the central nervous system, Mild postnatal growth retardation, Malabsorption, ... ORPHA:2136
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Feeding difficulties, Dysphagia ORPHA:89844
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Eosinophilia, Cholangitis, Retroperitoneal fibros... ORPHA:449432
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... OMIM:256040
Medulloblastoma
Medulloblastoma OMIM:155255
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity, Intrauterine g... OMIM:268130
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Protruding tongue, Decreased circulating antibody level, Feeding... OMIM:617062
Say-Barber-Miller Syndrome
Short stature, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infan... ORPHA:3132
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni... ORPHA:935
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok... ORPHA:158048
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Growth delay, Basal... ORPHA:79409
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Inflammator... ORPHA:398063
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomeli... ORPHA:508542
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Micronodular cirrhosis, Esophageal carcinoma, A... ORPHA:139507
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Midline brainstem cleft, Agenesis of corpus callosum, Hypop... OMIM:617542
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Cutan... ORPHA:79410
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... ORPHA:284
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... OMIM:614602
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Anti-thyroid pe... OMIM:610199
Ring Chromosome 21 Syndrome
Short stature, Decreased circulating antibody level, Azoospermia, Infertility, Amenorrhea ORPHA:1445
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Microvesicular ... OMIM:618278
Fanconi Anemia
Leukopenia, Abnormality of the liver, Neoplasm, High palate, Short stature, Myelodysplasia, Aplas... ORPHA:84
Platelet Disorder, Undefined
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm OMIM:173420
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Increased mean platelet ... OMIM:222470
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain... ORPHA:300573
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Secretory diarrhea, Eleva... OMIM:619573
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism, Transient hypogammaglobulinemia of infancy OMIM:251240
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Lymphocytoma cutis, Increased circulating IgG level, T... ORPHA:449395
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level ORPHA:99811
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of neutrophils, Malabso... ORPHA:33226
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... OMIM:269200
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Tick-Borne Encephalitis
Elevated hepatic transaminase, Anorexia, Leukocytosis, Increased circulating IgG level, Increased... ORPHA:297
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Increased circulating l... ORPHA:247598
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Short stature, Abnor... ORPHA:99843
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Growth delay, Colitis, Pyoderma, Cro... OMIM:613148
Wilson Disease
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hemolytic... OMIM:277900
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Increased hepatiti... ORPHA:90003
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Increased circulating IgM level, ... ORPHA:505248
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... OMIM:249100
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Decreased circulating antibody level, Feeding difficulties, Growth del... ORPHA:79396
Lynch Syndrome
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... ORPHA:144
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody posi... ORPHA:449563
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Failure to thrive, Ep... OMIM:238970
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... ORPHA:443167
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Anorex... OMIM:181000
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Neuroblastoma, Failure to thrive, Ga... OMIM:256700
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat... ORPHA:2331
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Increased circulating lactate dehydrogenase... OMIM:185070
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Crimean-Congo Hemorrhagic Fever
Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosi... ORPHA:39041
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... ORPHA:449427
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Jaundice, Diarrhea, Increased circulating ... ORPHA:99824
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, High, narrow palate, Cryptorchidism, Increased mean ... ORPHA:33364
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:467166
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Decreased... ORPHA:370959
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Short stature, Myelodysplasia, Glomu... ORPHA:97685
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... OMIM:608233
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Howell-Joll... ORPHA:85443
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Short stature, Decreased r... OMIM:203800
Poems Syndrome
Lymphoproliferative disorder, Weight loss, Lymphadenopathy, Increased circulating antibody level,... ORPHA:2905
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, E... ORPHA:99829
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, ... OMIM:615895
Netherton Syndrome
Skin rash, Eczema, Short stature, Malabsorption, Increased circulating IgE level, Decreased circu... ORPHA:634
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurren... OMIM:617718
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... OMIM:617827
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia OMIM:602361
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Seborrheic dermatitis... OMIM:274000
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Increased circ... ORPHA:79139
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Nephroblastoma, Supernumerary nipple, Splenomegaly, High, narrow palate, Increased ... ORPHA:373
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ody... ORPHA:319213
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Chronic diarrhea... OMIM:601675
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology, Neoplasm of the oral cavity ORPHA:525
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Multip... ORPHA:48377
Steinert Myotonic Dystrophy
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... ORPHA:273
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Jaundice, Fulminant hepatitis... OMIM:618549
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology ORPHA:280195
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Vici Syndrome
Decreased circulating IgG level, Short stature, Feeding difficulties in infancy, Feeding difficul... ORPHA:1493
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Increased circulating antibody le... ORPHA:77261
Myeloma, Multiple
Paraproteinemia OMIM:254500
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:88619
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... ORPHA:83597
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus, Multilobulated spl... OMIM:601186
Pudendal Neuralgia
Dyspareunia, Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genito... ORPHA:60039
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99413
Turner Syndrome
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99228
Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99226
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature ORPHA:391307
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Renal tubular epithelia... ORPHA:79404
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Jaundice, D... ORPHA:509
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Diarrhea, Hepati... ORPHA:90062
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Diamond-Blackfan Anemia 7
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Growth delay, Increased mean corpuscul... OMIM:612562
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... ORPHA:288
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Xfe Progeroid Syndrome
Severe short stature, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Short statur... ORPHA:79259
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Growth dela... ORPHA:541423
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Feeding difficulties in infancy, Cheilitis, Hepatitis ORPHA:1334
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Gaisböck Syndrome
Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes... ORPHA:90041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
1P36 Deletion Syndrome
Short stature, Feeding difficulties in infancy, Abnormality of the spleen, Pyloric stenosis, Pate... ORPHA:1606
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, De... OMIM:232220
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... ORPHA:95455
Beckwith-Wiedemann Syndrome
Large for gestational age, Feeding difficulties in infancy, Leiomyosarcoma, Neoplasm, Hepatoblast... ORPHA:116
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Feeding difficulties, ... ORPHA:415
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Eso... ORPHA:79351
Wolfram Syndrome 2
Primary amenorrhea, Decreased circulating antibody level, Gastric ulcer, Oligomenorrhea, Impaired... OMIM:604928
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... OMIM:250250
De Sanctis-Cacchione Syndrome
Severe short stature, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Gastroesopha... ORPHA:198
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d... OMIM:618183
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Sponastrime Dysplasia
Small for gestational age, Rhizomelia, Recurrent pneumonia, Decreased circulating antibody level,... ORPHA:93357
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndr... ORPHA:276152
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Gastroesophageal reflux, Neuroblastoma, Failure... ORPHA:99803
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Progressive Non-Fluent Aphasia
Brain neoplasm ORPHA:100070
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Ante... ORPHA:728
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Short stature, Eczema, Abnormality of neutrophils, Malabsorpti... ORPHA:235
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum OMIM:618325
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Ganglioneuroblastoma, Neoplasm of the central nervous system, Neuroblastom... ORPHA:661
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... ORPHA:356961
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Small for gestational age, Impaired T cell function, Allergic rh... OMIM:176690
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Velocardiofacial Syndrome
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Velopharyngeal insuf... OMIM:192430
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hormone concentration, P... OMIM:131100
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology ORPHA:8
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate, Para... ORPHA:2237
Distal Deletion 19P
Cleft palate, Decreased circulating antibody level ORPHA:96129
Noonan Syndrome With Multiple Lentigines
Short stature, Myelodysplasia, Cryptorchidism, Decreased fertility, Growth delay, Melanoma, Intra... ORPHA:500
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Gastroesop... ORPHA:64
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Uveitis, Melanom... ORPHA:790
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Multiple Benign Circumferential Skin Creases On Limbs
Localized neuroblastoma, Short stature, Cleft palate, Cryptorchidism ORPHA:2505
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Short st... OMIM:614162
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia ORPHA:2306
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:254930
Mowat-Wilson Syndrome
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Short stature, ... ORPHA:2152
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel... ORPHA:2908
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the lar... OMIM:232240
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Nmda Receptor Encephalitis
Ovarian teratoma, Anti-NMDA receptor antibody positivity, Neoplasm of the thymus, Diarrhea, Hodgk... ORPHA:217253
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Constipation, Aplasia... ORPHA:264450
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Neoplasm of the nervous system, Aganglionic megacolon, Ganglioneuroblastoma ORPHA:2151
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Small cell lung carcinoma, Patent du... ORPHA:821
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Gastroparesis, Proportionate short stature, Fee... ORPHA:500150
Joubert Syndrome 2
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... OMIM:608091
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... ORPHA:68
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, High palate, Hypoplastic nipples, Cleft palate OMIM:156610
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Posterior pituitary hypoplasia, Abnormal brainstem morphology ORPHA:464311
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Pyloric stenosis, Cleft hard ... ORPHA:261537
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Agenesis of corp... ORPHA:506
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te... ORPHA:293987
Aase-Smith Syndrome I
Congenital neuroblastoma, Cleft palate OMIM:147800
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Kinked brainstem OMIM:617822
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... ORPHA:506358
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Autoimmune antibody positivity, Breast carcinoma, Ne... ORPHA:1183
Neurofibromatosis-Noonan Syndrome
Short stature, Cryptorchidism, Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neuroblastoma... OMIM:601321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Pyloric stenosis, Cleft hard ... ORPHA:261552
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Ganglioneuroblastoma, Feeding difficulties, Chronic constipation, Neurobla... OMIM:209880
Joubert Syndrome 1
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cer... OMIM:213300
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Microno... OMIM:215600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Agenesis of corpus callosum, Kinked brainstem OMIM:236670
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Decreased response to growth hormone stimulation... ORPHA:93924
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,... OMIM:606593
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology ORPHA:139396
Achondroplasia
Brain stem compression OMIM:100800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy ORPHA:258
Arima Syndrome
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:243910
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Listeriosis
Abnormal brainstem MRI signal intensity ORPHA:533
Pineoblastoma
Retinoblastoma, Pinealoma ORPHA:251909
Full Nf2-Related Schwannomatosis
Brain stem compression ORPHA:637
Osteogenesis Imperfecta
Brain stem compression ORPHA:666

Histopathology

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

There is no histopathology data for Lig4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lig4.

No publications found that use IMPC mice or data for Lig4.

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MGI Allele Allele Type Produced
Lig4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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