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Gene: Nfkbia MGI:104741

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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:
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
Synonyms:
I-kappaBalpha,  I(Kappa)B(alpha),  IkappaBalpha,  Nfkbi

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 Nfkbia mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Defective production of NFKB1-depend... OMIM:612132

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
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, Reduced natural killer ... OMIM:300400
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... ORPHA:90280
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Psoriasiform lesion, Eosinophilia, Increased circulating IgA level, Autoimmune... ORPHA:169154
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, ... ORPHA:3406
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Dry ... ORPHA:2584
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype... ORPHA:737
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... OMIM:618261
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... ORPHA:312
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Palmoplantar Keratoderma, Norrbotten Recessive Type
Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule ORPHA:2337
Rosaï-Dorfman Disease
Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
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 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Weight l... ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Increased cir... OMIM:617388
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity, ... OMIM:618116
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis OMIM:101900
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Erythrokeratodermia Variabilis
Macule, Skin rash, Hypermelanotic macule, Short stature, Erythema, Patchy palmoplantar hyperkerat... ORPHA:317
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule, Delayed puberty ORPHA:2297
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Cutis marmorata, Increased circulating IgA level, Follicular hyperplasia, Eryt... OMIM:615934
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Weight loss, Anemia, Leuk... ORPHA:507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Skin ulcer ORPHA:217390
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... ORPHA:89838
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema ORPHA:33314
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... OMIM:209950
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Papule ORPHA:1336
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... OMIM:618495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... ORPHA:275
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... ORPHA:2897
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level, Scaling skin OMIM:270300
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb... OMIM:614470
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Aca... ORPHA:555905
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... ORPHA:397596
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin OMIM:617571
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Pyo... OMIM:604416
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin, Abnormal immunoglobulin level ORPHA:90159
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth... ORPHA:231
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin, Ichthyosis OMIM:146700
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... ORPHA:47
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Skin plaque ORPHA:464318
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... ORPHA:79399
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Hepatitis, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule ORPHA:525
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, In... OMIM:618282
Elastosis Perforans Serpiginosa
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... ORPHA:79148
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... OMIM:300755
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body... ORPHA:64745
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Ichthyosis With Confetti
Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbul... OMIM:609165
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, D... ORPHA:89843
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Granu... ORPHA:454831
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Papule, Histiocytosis ORPHA:157997
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Sjögren-Larsson Syndrome
Short stature, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Sézary Syndrome
Abnormal immunoglobulin level, Pruritus, Splenomegaly, Dry skin, Palmoplantar keratoderma, Erythr... ORPHA:3162
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Growth delay, Short stature ORPHA:2812
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Dry skin, Scle... ORPHA:384
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski... ORPHA:79100
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Pyod... ORPHA:486
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Failure to thrive ORPHA:1954
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Netherton Syndrome
Parakeratosis, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... OMIM:256500
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Hypopigmented macule, Dry skin, Hypermelanotic macule OMIM:617920
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Urticaria,... ORPHA:343
Lamellar Ichthyosis
Short stature, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chron... ORPHA:313
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abnormality o... ORPHA:79456
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir... ORPHA:48104
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Erythema, Increased circulating IgE l... OMIM:615816
Anonychia With Flexural Pigmentation
Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis ORPHA:69125
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Acrokeratoelastoidosis Of Costa
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... ORPHA:38
Epidermolytic Hyperkeratosis 1
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... OMIM:113800
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... OMIM:620210
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circulating C-react... OMIM:613011
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobbleston... OMIM:602540
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer ORPHA:31112
Omenn Syndrome
Failure to thrive, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leukocytosis, Thickened skin,... ORPHA:39041
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... OMIM:304790
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, S... OMIM:612840
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Erythem... ORPHA:742
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... ORPHA:166113
Boutonneuse Fever
Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Leu... ORPHA:83313
Cutaneous Mastocytoma
Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Lymphadenopathy, Flushing, Derma... ORPHA:79455
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level, Epidermal acanthosis OMIM:616069
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Cutaneous photosensitivit... OMIM:616395
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Dry skin, Thrombo... OMIM:620184
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... ORPHA:100976
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... ORPHA:86884
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Perianal erythema, Perioral erythema OMIM:614328
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Thrombocytopenia, Leukocytosis, ... ORPHA:824
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Cholestasis, Lymphadenopathy, Scaling ski... ORPHA:293173
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:607936
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... OMIM:613179
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss, Generalized abnorm... ORPHA:2902
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C... OMIM:308800
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... OMIM:615508
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Growth delay, Dry skin, Anemia OMIM:614450
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars OMIM:131850
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Follicular hyperkeratosis, Delayed puberty, Dry skin, Mildly elevated creatine kinase ORPHA:486815
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... ORPHA:822
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... ORPHA:449400
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Prolidase Deficiency
Petechiae, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulce... OMIM:170100
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Simple Cryoglobulinemia
Viral hepatitis, Purpura, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M pr... ORPHA:91139
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Tempi Syndrome
Telangiectasia, Facial erythema, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... OMIM:614457
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Leopard Syndrome 3
Few cafe-au-lait spots, Numerous nevi, Short stature, Epidermal hyperkeratosis, Growth delay, Hyp... OMIM:613707
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Perianal erythema, Impaired T cell function, Splenomegaly, Perio... OMIM:201100
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... ORPHA:79145
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... OMIM:619644
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Impaired T c... OMIM:614576
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Congenital Ichthyosiform Erythroderma
Short stature, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure t... ORPHA:79394
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia, Pallor, Thro... ORPHA:848
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Failure to thrive, Petechiae, Eczema, Proportionate short stature, Hyperpigmented/h... OMIM:620331
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule OMIM:247100
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul... ORPHA:69126
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Increased circulating IgM l... ORPHA:37748
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis OMIM:615022
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Epidermal acanthosis, Scaling skin ORPHA:90368
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Takayasu Arteritis
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Weight loss, Arthritis, Inflamm... ORPHA:3287
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Dry skin OMIM:224750
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactiv... OMIM:614204
Ollier Disease
Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis OMIM:618535
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Netherton Syndrome
Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Skin u... ORPHA:2314
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis, Papule ORPHA:1334
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis ORPHA:2269
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Pili Torti-Onychodysplasia Syndrome
Eczema, Generalized keratosis follicularis, Palmoplantar keratoderma, Keloids, Dry skin ORPHA:2890
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... ORPHA:90186
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
C1Q Deficiency 2
Decreased circulating C1q concentration, Reduced hemolytic complement activity, Facial erythema, ... OMIM:620321
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Weight l... ORPHA:139402
Thyrotropin-Releasing Hormone Deficiency
Dry skin, Short stature OMIM:275120
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Skin erosion, Localized skin lesion, Gastrointestinal inflammation, Atypical scarring o... ORPHA:79410
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma OMIM:608649
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Acrogeria
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Excessive wrinkled skin, Thin skin ORPHA:2500
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Elevated circulating C-reactive protein concentration, Py... ORPHA:49566
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... OMIM:618531
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... OMIM:260920
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ataxia-Photosensitivity-Short Stature Syndrome
Urticaria, Cutaneous photosensitivity, Dry skin ORPHA:1184
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Granulomatous Slack Skin
Abnormal lymph node morphology, Erythema, Redundant skin, Cutis laxa ORPHA:33111
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Scaling skin ORPHA:90158
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Moynahan Syndrome
Hyperkeratosis, Short stature, Cachexia ORPHA:2574
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level ORPHA:100
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Maculopapular exanthema, Skin ras... ORPHA:398124
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Erythema, Cirrhosis, Cholelithiasis, Cutaneous photosensitivity ORPHA:79278
Phenylketonuria
Scleroderma, Dry skin, Eczema OMIM:261600
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He... ORPHA:829
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot, Short stature OMIM:618625
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Lymphadenitis, Erythema, Sc... ORPHA:90156
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Subcutaneous nodule, Neutropenia, Papu... ORPHA:228119
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Erythema, Subcutaneous nodul... ORPHA:767
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Hyperkeratosis, Ichthyosis, Dry skin OMIM:610768
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Chronic Granulomatous Disease
Macule, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Hypermelanotic macule, Sple... ORPHA:379
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta... ORPHA:218
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... OMIM:613385
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Erythema, Weight loss, Telangiectasia, ... ORPHA:420741
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Obesity, Acanthosis nigricans, Keloids, Dry skin ORPHA:3085
Trichothiodystrophy 6, Nonphotosensitive
Small for gestational age, Short stature, Mild intrauterine growth retardation, Ichthyosis, Dry skin OMIM:616943
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... OMIM:619375
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Toxic Epidermal Necrolysis
Macule, Acantholysis, Erythema, Skin ulcer, Weight loss, Anemia, Conjunctivitis, Neutropenia, Pan... ORPHA:537
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:614640
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto t... OMIM:615688
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Anemia, Cutaneous photosensitivity, Scaling skin... OMIM:620370
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Skin nodule ORPHA:199267
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Splenomegaly, Sclerosing cholangitis, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Proteus Syndrome
Hyperkeratosis, Splenomegaly, Epidermal nevus, Nevus OMIM:176920
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Short stature, Skin ulcer ORPHA:1806
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... ORPHA:79330
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:600630
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Dermatitis Herpetiformis
Skin vesicle, Urticaria, Erythema, Microcytic anemia ORPHA:1656
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Short stature, Ichthyosis, Palmoplantar kerato... OMIM:242150
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Pustule, Overweight, Leukocytosis, Cheilit... ORPHA:247353
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... ORPHA:760
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Lead Poisoning
Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... ORPHA:330015
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Hydroa Vacciniforme
Hydroa vacciniforme, Erythema, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:330058
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis ORPHA:457
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Short stat... OMIM:604173
Glutamate Formiminotransferase Deficiency
Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease... ORPHA:353298
Trichothiodystrophy 1, Photosensitive
Short stature, Small for gestational age, Dry skin, Hyperkeratosis, Keratoconjunctivitis sicca, C... OMIM:601675
Free Sialic Acid Storage Disease
Splenomegaly, Failure to thrive in infancy, Skin ulcer ORPHA:834
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Erythema Of Acral Regions
Erythema OMIM:227000
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Obesity ORPHA:3409
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Spider hemangioma, Splenomegaly, Fulminant hepatitis, Jaundice,... ORPHA:2137
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Erythema, Cholelithiasis OMIM:177000
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Bullous Impetigo
Erythema, Abnormality of the lymphatic system ORPHA:36237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Eczema, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Dry skin, Leukop... ORPHA:508542
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure ORPHA:659
Cutaneous Small Vessel Vasculitis
Urticaria, Erythema, Cutis marmorata, Purpura ORPHA:889
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Keratolytic Winter Erythema
Erythema OMIM:148370
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Decreased circulating complement factor B concentra... ORPHA:2298
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Buerger Disease
Skin ulcer ORPHA:36258
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Der... ORPHA:163525
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma, Pruritus ORPHA:280785
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Erythema Nodosum, Familial
Erythema OMIM:132990
Maculopapular Cutaneous Mastocytosis
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing ORPHA:79457
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... ORPHA:125
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Hypopigmented skin patches, Er... ORPHA:330064
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry ... ORPHA:238468
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Letterer-Siwe Disease
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r... OMIM:615952
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Growth delay, Ichthyosis, Dry skin ORPHA:177
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Erythema, L... ORPHA:99812
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Ab... OMIM:612852
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Pustule, Erythema, Cheilitis, Skin ulcer, Weight loss, Conjunct... ORPHA:37
Subcorneal Pustular Dermatosis
Erythema, Increased circulating antibody level ORPHA:48377
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Short stature, Hypermelanotic macule, Abnormality of neut... ORPHA:1775
Erythema Elevatum Diutinum
Skin vesicle, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Urti... OMIM:616050
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... OMIM:615468
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc... OMIM:116920
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Chromomycosis
Erythematous macule, Pruritus, Keratitis, Hyperparakeratosis, Subcutaneous nodule, Verrucous papu... ORPHA:182
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Cutaneous photosensitivity, Thrombocytopenia OMIM:615715
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Spinocerebellar Ataxia Type 34
Macule, Dry skin, Papule ORPHA:1955
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Pal... ORPHA:79397
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Cole Disease
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... OMIM:616433
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Scaling skin, Hemophagocytosis,... ORPHA:39812
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Acquired Partial Lipodystrophy
Autoimmunity, Lymphocytosis ORPHA:79087
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... ORPHA:79151
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... OMIM:145250
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Dry skin OMIM:275100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lymphaden... OMIM:615895
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Facial erythema, Decreased ci... OMIM:210900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Small for gestational age, Increased mean platelet volume, Splenomegal... ORPHA:84064
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... ORPHA:158048
Porphyria Cutanea Tarda
Viral hepatitis, Poor wound healing, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level,... ORPHA:101330
Flynn-Aird Syndrome
Cachexia, Dermal atrophy, Skin ulcer ORPHA:2047
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Incontinentia Pigmenti
Skin rash, Eosinophilia, Short stature, Keratitis, Erythema, Hypopigmented skin patches, Uveitis,... ORPHA:464
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Sydenham Chorea
Erythema ORPHA:306731
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... ORPHA:186
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer OMIM:604571
Immunodeficiency 7
Chronic oral candidiasis, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmu... OMIM:615387
Catastrophic Antiphospholipid Syndrome
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... ORPHA:464343
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo... OMIM:612541
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Leukopenia, Decreased circulating complement C4 conc... ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy OMIM:619183
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Short stature, Obesity ORPHA:1035
Reynolds Syndrome
Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis, ... ORPHA:779
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia OMIM:619750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Immunodeficiency 88
Eosinophilia OMIM:619630
Familial Melanoma
Neoplasm of the pancreas, Dry skin, Abnormality of the lymphatic system ORPHA:618
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Short stature, Acute leukemia ORPHA:281090
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Cryoglobulinemic Vasculitis
Viral hepatitis, Splenomegaly, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura ORPHA:91138
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Multinodular goiter, Scaling skin, Palmoplantar keratoderma OMIM:618373
Keratolytic Winter Erythema
Erythema ORPHA:50943
Werner Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin ulcer, Hyperkeratosi... ORPHA:902
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Snakebite Envenomation
Angioedema, Erythema, Ecchymosis, Hypopituitarism, Thrombocytopenia ORPHA:449285
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Premature graying of hair, Leukopenia, Bone marrow... OMIM:613990
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Papule ORPHA:530
Darier-White Disease
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua... OMIM:124200
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... OMIM:173200
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired... OMIM:187800
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Erythema, Weight loss ORPHA:33577
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Dry skin, Shagreen patch ORPHA:2617
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Ddost-Cdg
Failure to thrive, Dry skin, Short stature ORPHA:300536
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Subcutaneous nodule OMIM:618339
Xeroderma Pigmentosum Variant
Keratitis, Dry skin, Dermal atrophy ORPHA:90342
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hereditary Acrokeratotic Poikiloderma
Short stature, Eczema, Pustule, Erythema, Hypopigmented skin patches, Palmoplantar hyperkeratosis... ORPHA:2907
Brooke-Spiegler Syndrome
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia OMIM:227090
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Failure to thrive, Chilblains, Hepatosplenome... OMIM:619487
Oslam Syndrome
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils ORPHA:2760
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Recurrent infections, Autoimmunity, Systemic lupus eryt... OMIM:613652
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Acanthosis nigricans, Dry skin, Short stature, Small for gestational age OMIM:262190
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis... OMIM:225750
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Increased circulating IgA level, Orchitis, We... ORPHA:48435
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Noonan Syndrome 8
Short stature, Eczema, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Failur... OMIM:615355
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, S... ORPHA:727
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Granulomatosis, Conjunctivi... OMIM:608710
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulating IgA level OMIM:613327
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Growth delay, Hyperkeratosis, Congenital ichthyosiform erythroderma, P... OMIM:242100
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin, Aplasia cutis congenita of scalp OMIM:600906
Leopard Syndrome 2
Cafe-au-lait spot, Dry skin, Multiple lentigines, Short stature OMIM:611554
Dermoodontodysplasia
Dry skin, Thin skin, Melanocytic nevus ORPHA:1660
Warty Dyskeratoma
Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid... ORPHA:69745
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Failure to thrive, Small f... OMIM:557000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Decreased circulating antibody level, Failure to thrive, Generalized abnormality of ski... ORPHA:79396
Tangier Disease
Splenomegaly, Hepatomegaly, Dry skin OMIM:205400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level OMIM:617425
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... ORPHA:400
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Erythema, Urticaria, Skin vesicle, Mastocytosis, Failure to thrive ORPHA:2135
Mycosis Fungoides
Erythema, Lymphadenopathy OMIM:254400
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ... ORPHA:69087
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Familial Multiple Nevi Flammei
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule ORPHA:624
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Dermatoosteolysis, Kirghizian Type
Keratitis, Osteoarthritis, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, A... ORPHA:99867
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... ORPHA:93672
Copper Deficiency, Familial Benign
Failure to thrive, Anemia, Seborrheic dermatitis OMIM:121270
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circu... OMIM:617591
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Short stature, Melanocytic nevus ORPHA:1573
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... OMIM:212065
Xeroderma Pigmentosum
Macule, Failure to thrive, Short stature, Hypermelanotic macule, Keratitis, Thickened skin, Eryth... ORPHA:910
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Noonan Syndrome 5
Short stature, Large for gestational age, Dry skin, Multiple lentigines, Nevus, Cafe-au-lait spot OMIM:611553
Mal De Meleda
Perioral erythema OMIM:248300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... ORPHA:90340
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Thrombocytopenia, P... OMIM:617052
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Adiposis Dolorosa
Recurrent skin infections, Subcutaneous nodule, Obesity, Arthritis, Dry skin ORPHA:36397
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... ORPHA:66628
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Thin skin OMIM:617364
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Abnormal mast cell morphology ORPHA:398189
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Scarring alopecia of scalp, Ichthyosis, Erythematous plaque, Severe postnatal grow... ORPHA:35173
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Dry skin, Short stature OMIM:268020
Thyroid Dyshormonogenesis 1
Growth delay, Dry skin OMIM:274400
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Colitis, Pallor, Papule, Neutrophilia, Leukocytosis, Hepatosplenomegaly, Chronic hep... ORPHA:3260
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Anemia,... ORPHA:261323
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Eczema, Obesity OMIM:620191
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... OMIM:605676
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytosis, Hypochromi... OMIM:259720
Infantile Systemic Hyalinosis
Severe short stature, Thickened skin, Subcutaneous nodule, Skin ulcer, Growth delay, Failure to t... ORPHA:2176
Pachyonychia Congenita
Epidermoid cyst, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Pa... ORPHA:2309
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... ORPHA:179494
Gaucher Disease, Perinatal Lethal
Petechiae, Splenomegaly, Hepatosplenomegaly, Anemia, Hyperkeratosis, Congenital nonbullous ichthy... OMIM:608013
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Eosinophilia, Pituit... ORPHA:199299
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react... ORPHA:900
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ... ORPHA:77259
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Fucosidosis
Hepatomegaly, Failure to thrive, Angiokeratoma, Splenomegaly, Vacuolated lymphocytes, Bruising su... OMIM:230000
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Preeclampsia
Helicobacter pylori infection, Autoimmunity, Elevated circulating creatinine concentration, Polyc... ORPHA:275555
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma OMIM:613576
Ramon Syndrome
Hyperkeratosis, Failure to thrive ORPHA:3019
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Distal Duplication 6P
Intrauterine growth retardation, Sacral dimple, Dry skin, Short stature ORPHA:1745
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Abnormality ... ORPHA:94059
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ectodermal dysplasia, Dry skin OMIM:129490
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Dry skin, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Elastoderma
Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule ORPHA:228240
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Erythema, ... ORPHA:50918
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... ORPHA:302
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Overlap Myositis
Autoimmunity, Elevated circulating creatine kinase concentration, Antinuclear antibody positivity... ORPHA:206572
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgG level, Decre... OMIM:607143
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Growth delay, Thin skin, Aplasia cutis congenita, Dry skin, Intraute... ORPHA:217346
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Bacterial Toxic-Shock Syndrome
Abscess, Peritonitis, Increased circulating myelocyte count, Hepatitis, Scaling skin, Ecchymosis,... ORPHA:36234
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... ORPHA:449395
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... ORPHA:85414
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema, Decreased body weight OMIM:278760
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Dry skin, Prolonged neonatal jaundice ORPHA:95715
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Bullous Pemphigoid
Urticaria, Erythema, Weight loss ORPHA:703
Arthrogryposis And Ectodermal Dysplasia
Atypical scarring of skin, Hyperkeratosis, Dry skin, Short stature OMIM:601701
Cardiofaciocutaneous Syndrome
Short stature, Redundant skin, Failure to thrive in infancy, Excessive wrinkled skin, Hyperkerato... ORPHA:1340
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon... ORPHA:1830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... ORPHA:293978
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... ORPHA:100026
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Scal... OMIM:618419
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Thickened skin, Arthritis, Palmoplantar... ORPHA:2796
Familial Cold Autoinflammatory Syndrome 3
Dermatographic urticaria, Angioedema, Erythema, Cold urticaria OMIM:614468
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Dry skin, Spotty hypopigmentation OMIM:300860
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Aplasia/Hypoplasia of the skin, Pruritus, Myocardit... ORPHA:221
Rat-Bite Fever
Parotitis, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia ORPHA:31205
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion, Short stature OMIM:616298
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Mednik Syndrome
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Ichthyosis ORPHA:171851
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Urticaria, Angioedema, Erythema ORPHA:100057
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth... OMIM:613026
Leprosy
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Verrucous papule... ORPHA:548
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... ORPHA:329918
Refsum Disease
Splenomegaly, Dry skin ORPHA:773
Familial Cold Urticaria
Urticaria, Erythema ORPHA:47045
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... ORPHA:2968
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Autoimmunity, Glomerulonephritis, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis ORPHA:3474
Stevens-Johnson Syndrome
Macule, Abnormality of neutrophils, Acantholysis, Thrombocytopenia, Erythema, Weight loss, Conjun... ORPHA:36426
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypopigmented skin patches, Truncal obesity, Multiple cafe-au-lai... ORPHA:2637
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... ORPHA:449563
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... ORPHA:33364
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive, Short stature OMIM:615279
Calciphylaxis
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Defective production of NFKB1-depend... OMIM:612132
Mpdu1-Cdg
Scaling skin, Decreased response to growth hormone stimulation test ORPHA:79323
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi... ORPHA:77297
Squalene Synthase Deficiency
Intrauterine growth retardation, Dry skin, Failure to thrive in infancy OMIM:618156
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Cushing Disease
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Skin ulcer, Tru... ORPHA:96253
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Rift Valley Fever
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... ORPHA:319251
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Noonan Syndrome 14
Lymphopenia, Dry skin, Bruising susceptibility, Cryptorchidism OMIM:619745
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... ORPHA:562639
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... ORPHA:169090
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Prolonged neon... ORPHA:99832
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... ORPHA:543
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Erythematous plaque, Thi... ORPHA:158673
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Mirage Syndrome
Petechiae, Thrombocytopenia, Cryptorchidism, Leukopenia, Decreased body weight, Hypoplastic splee... OMIM:617053
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Thickened skin, Subcutaneous nodule, Skin ulcer, Panniculitis, Scaling skin... ORPHA:2526
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Elevated circulating ... ORPHA:90291
Thrombocytopenia 5
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer ORPHA:2591
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis OMIM:609638
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... OMIM:619151
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Granuloma... ORPHA:68
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Increased tot... ORPHA:90036
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc... OMIM:224120
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe... OMIM:186580
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... ORPHA:95455
Agel Amyloidosis
Cutis laxa, Abnormal spleen morphology, Dry skin, Dermatological manifestations of systemic disor... ORPHA:85448
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate,... ORPHA:83617
Eec Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Keratitis, Inflammatory abnormality of the eye, Hy... ORPHA:1896
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Fluctuating hepat... OMIM:610377
Costello Syndrome
Short stature, Redundant skin, Failure to thrive in infancy, Lack of skin elasticity, Hyperkerato... ORPHA:3071
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration OMIM:162400
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Pituitary adenoma, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, B... OMIM:219090
Donohue Syndrome
Hypermelanotic macule, Postnatal growth retardation, Hyperkeratosis, Severe failure to thrive, Ac... OMIM:246200
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Eczema, Small for gestational age, Growth delay, Neutropenia, Dry skin OMIM:617799
Immunoglobulin A Vasculitis
Episcleritis, Macule, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious e... ORPHA:761
Peroxisome Biogenesis Disorder 14B
Hydrocele testis, Dry skin OMIM:614920
Sheehan Syndrome
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Gonadotropin... ORPHA:91355
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Erythema, Cheilitis, Atypical scarring... ORPHA:2908
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Q Fever
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Wei... ORPHA:781
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97282
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Short stature, Keratitis, Leukocytosis, Erythema, Uveitis,... OMIM:308300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Orthokeratosis, Acne inversa OMIM:617337
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... OMIM:301220
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Rapp-Hodgkin Syndrome
Short stature, Palmoplantar keratoderma, Thin skin, Recurrent otitis media, Dry skin OMIM:129400
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Bruising susceptibility, Thrombocytopenia OMIM:185070
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... ORPHA:99827
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... ORPHA:449427
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Microvesicular ... OMIM:618278
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Facial erythema, Palmoplantar keratoderma, Scaling skin, Skin fissure, Dry skin, Sclerodactyly ORPHA:1010
Dubowitz Syndrome
Sacral dimple, Short stature, Eczema, Abnormality of neutrophils, Postnatal growth retardation, A... ORPHA:235
Noonan Syndrome 13
Recurrent otitis media, Cafe-au-lait spot, Multiple lentigines, Dry skin OMIM:619087
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Cachexia, Dermal atrophy, Dry skin ORPHA:220295
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Bachmann-Bupp Syndrome
Cryptorchidism, Dry skin, Large for gestational age OMIM:619075
Radio-Tartaglia Syndrome
Dry skin, Obesity, Striae distensae OMIM:619312
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Hypoalbuminemia, Dermal atrophy, Dry skin OMIM:610965
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Decreased circulating antibody level ORPHA:99811
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Pneumocystosis
Weight loss, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, N... ORPHA:520
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Necrolytic migratory... ORPHA:438274
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Congenital ichthyosiform erythroderma, Congenital nonbu... OMIM:302960
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Short stature OMIM:616029
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis OMIM:602400
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Short stature ORPHA:1883
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... ORPHA:391487
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Giant Cell Arteritis
Arthritis, Pericarditis, Skin ulcer, Weight loss ORPHA:397
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Sialidosis Type 1
Hyperkeratosis, Splenomegaly, Short stature ORPHA:812
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Erythema ORPHA:53715
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Erythema, Peritonitis, Lymphadenopathy, Bruising susceptibi... ORPHA:32960
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro... OMIM:614742
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Urachal Cyst
Leukocytosis, Erythema, Abscess, Peritonitis ORPHA:488
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch... ORPHA:88
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... OMIM:308205
Zika Virus Disease
Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Premature graying of hair, Bone m... ORPHA:3322
Myeloma, Multiple
Paraproteinemia OMIM:254500
Koolen-De Vries Syndrome
Sacral dimple, Failure to thrive, Short stature, Eczema, Small for gestational age, Intrauterine ... OMIM:610443
Plague
Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Localized skin lesion, Ent... ORPHA:707
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Acne, Hypoalbuminemia, Seborrheic dermatitis OMIM:614441
Alg11-Cdg
Failure to thrive, Dry skin ORPHA:280071
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Hajdu-Cheney Syndrome
Failure to thrive, Short stature, Splenomegaly, Thickened skin, Skin ulcer, Periodontitis, Delaye... ORPHA:955
Angioedema, Hereditary, 1
Angioedema, Erythema, Reduced hemolytic complement activity, Decreased circulating complement C4 ... OMIM:106100
Acute Adrenal Insufficiency
Normocytic anemia, Dry skin, Weight loss, Increased circulating renin level, Delayed puberty, Fai... ORPHA:95409
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ... ORPHA:2072
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated circulating C-reactive protein co... OMIM:619573
Hydroxykynureninuria
Stomatitis, Dry skin ORPHA:79155
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Jung Syndrome
Dry skin ORPHA:2321
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... ORPHA:79329
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Pruritus, Recurrent pneumonia, Cheilitis, ... ORPHA:158668
9P13 Microdeletion Syndrome
Recurrent otitis media, Cafe-au-lait spot, Dry skin, Short stature ORPHA:324313
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Fountain Syndrome
Erythema, Cutis marmorata ORPHA:3219
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Skin ulcer ORPHA:220393
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Erythema OMIM:618321
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97280
Tooth Agenesis, Selective, 4
Dry skin, Thin skin, Palmar hyperkeratosis OMIM:150400
Lymphatic Malformation 12
Neonatal death, Hyperkeratosis OMIM:620014
Mycetoma
Recurrent bacterial skin infections, Osteomyelitis, Subcutaneous nodule, Cobblestone-like hyperke... ORPHA:2583
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, ... ORPHA:99921
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Cholangitis, Hypersplenism, Anti-thyroid peroxidase antibody positivi... ORPHA:228426
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... OMIM:242840
Monosomy 18Q
Patent ductus arteriosus, Decreased circulating IgA level ORPHA:1600
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin OMIM:619306
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Septo-Optic Dysplasia Spectrum
Dry skin, Short stature, Obesity ORPHA:3157
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Cryptorchidism, Erythema, Facial erythema, Neutropeni... ORPHA:221016
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Prur... ORPHA:79099
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Koolen-De Vries Syndrome
Dry skin, Short stature, Ichthyosis ORPHA:96169
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... OMIM:603553
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Seborrheic dermatitis, Splenomegaly, Truncal obesity, Papule, Aspiration pneumonia... OMIM:301072
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Patent ductus arteriosus, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Cyanosis, Small for gestational ... ORPHA:90051
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Addison Disease
Normocytic anemia, Failure to thrive, Thiamine-responsive megaloblastic anemia, Weight loss, Incr... ORPHA:85138
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... OMIM:607944
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... ORPHA:373
Melas
Hypoparathyroidism, Erythema, Recurrent pancreatitis, Failure to thrive, Anemia ORPHA:550
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae OMIM:609242
Rabson-Mendenhall Syndrome
Short stature, Severe postnatal growth retardation, Acanthosis nigricans, Intrauterine growth ret... ORPHA:769
Hidrotic Ectodermal Dysplasia, Halal Type
Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Intrauterine growth retardation, Dry skin OMIM:619229
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Dry skin, Prolonged neonatal jaundice, Macroorchidism, Failure to thriv... ORPHA:90674
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Acral ulceration OMIM:256840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level ORPHA:369837
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal nevus, Short stature, Erythema, Hyperkeratosis, Congenital ichthyosiform... OMIM:308050
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis, Intraute... ORPHA:1005
Caffey Disease
Increased circulating antibody level ORPHA:1310
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... ORPHA:2136
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hemolytic anemia, Failure to thrive, Decreased response to g... OMIM:619503
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Erythema, Scaling skin ORPHA:294023
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Poems Syndrome
Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Acrocyanosis,... ORPHA:2905
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m... OMIM:617303
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration OMIM:608654
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... ORPHA:85443
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis OMIM:615225
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Adult Syndrome
Eczema, Conjunctivitis, Dermal atrophy, Thin skin, Dry skin OMIM:103285
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Failure to thrive, Small for gestational age, ... OMIM:133540
Aicardi-Goutières Syndrome
Myositis, Short stature, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leuk... ORPHA:51
Atypical Werner Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Short stature, Lack of skin elasticity, Skin u... ORPHA:79474
Noonan Syndrome 2
Short stature, Hyperkeratosis, Nevus, Palmoplantar cutis laxa, Leukemia, Cafe-au-lait spot OMIM:605275
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Oculocerebrorenal Syndrome Of Lowe
Short stature, Thrombocytopenia, Cheilitis, Skin ulcer, Atypical scarring of skin, Arthritis, Per... ORPHA:534
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Cryptorchidism, Facial erythema, Telangiectasia, Neut... ORPHA:221008
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Nevus, Seborrheic dermatitis ORPHA:276280
Monilethrix
Follicular hyperkeratosis ORPHA:573
Parkes Weber Syndrome
Prominent superficial blood vessels, Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology ORPHA:90307
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Trichinellosis
Increased circulating IgE level ORPHA:863
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... ORPHA:300298
Ullrich Congenital Muscular Dystrophy 1
Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis OMIM:254090
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Dry skin OMIM:619244
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Skin ulcer, Wei... ORPHA:99889
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Palmoplantar hyperkeratosis, Acute lymphoblastic leukemia, Ichthyosis,... OMIM:280000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Failure to thrive, Prematurely aged appearance... OMIM:216400
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Trichothiodystrophy 5, Nonphotosensitive
Cutis marmorata, Progeroid facial appearance, Chronic decreased circulating IgG1, Cutaneous photo... OMIM:300953
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Hypochromic microcytic anemia, Hepa... ORPHA:96123
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th... ORPHA:29207
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Decreased response to growth ... ORPHA:1855
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Splenomegaly, Media... ORPHA:809
Autoimmune Hypoparathyroidism
Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positivity, Chronic mucocutaneou... ORPHA:36913
Cardiofaciocutaneous Syndrome 1
Numerous nevi, Short stature, Splenomegaly, Atopic dermatitis, Hyperkeratosis, Multiple lentigine... OMIM:115150
Hermansky-Pudlak Syndrome
Thickened skin, Melanocytic nevus, Weight loss, Hyperkeratosis, Neutropenia ORPHA:79430
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Dry skin, Supernumerary nipple ORPHA:1812
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
X-Linked Intellectual Disability, Nascimento Type
Preauricular pit, Recurrent cutaneous abscess formation, Dry skin, Neutropenia ORPHA:163956
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin, Hypohidrotic ectodermal dysplasia, Absent nipple OMIM:614940
Familial Mediterranean Fever
Orchitis, Splenomegaly, Peritonitis, Erythema, Lymphadenopathy, Pancreatitis ORPHA:342
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... OMIM:615846
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis OMIM:253260
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Ectodermal dysplasia, Hypoplastic nipples, Periorbital wrinkles, Dry skin OMIM:614941
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly OMIM:618999
Hallermann-Streiff Syndrome
Small for gestational age, Proportionate short stature, Recurrent pneumonia, Dermal atrophy, Dry ... OMIM:234100
Mednik Syndrome
Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death OMIM:609313
Atopic Keratoconjunctivitis
Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis ORPHA:163934
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... ORPHA:98870
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Small for g... ORPHA:699
Cinca Syndrome
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Growth delay, Abnormal granulocyte morpho... ORPHA:1451
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:616651
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema OMIM:612843
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Systemic lupus erythematosus, Chronic ly... ORPHA:90033
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth... OMIM:148210
Bethlem Myopathy
Hyperkeratosis, Cigarette-paper scars, Elevated circulating creatine kinase concentration ORPHA:610
Restrictive Dermopathy 1
Epidermal hyperkeratosis, Stillbirth, Scaling skin, Thin skin, Neonatal death OMIM:275210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Short stature, Eczema, Large for gestational age, Hyperkeratosis, Multiple len... OMIM:607721
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Premature Aging Syndrome, Penttinen Type
Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Dermal atrop... OMIM:601812
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Nestor-Guillermo Progeria Syndrome
Growth delay, Failure to thrive, Dry skin, Short stature OMIM:614008
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level... ORPHA:505248
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticul... OMIM:227645
Cranioectodermal Dysplasia 3
Rhizomelia, Dry skin, Short stature, Cutis laxa OMIM:614099
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis OMIM:137940
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Dec... OMIM:274000
Restrictive Dermopathy
Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat glands, Scaling skin, Webbed n... ORPHA:1662
Viss Syndrome
Prominent superficial blood vessels, Increased circulating IgE level, Hypereosinophilia, Cutis la... OMIM:619472
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hype... ORPHA:79501
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Eczema, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin, Hypoplastic-absent sebaceous glands OMIM:305100
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c... ORPHA:91500
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... ORPHA:77261
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Failure to thr... OMIM:163950
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Hypereosinophilia, Epididymitis... ORPHA:2035
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy ORPHA:56425
Lysinuric Protein Intolerance
Hepatomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnor... ORPHA:470
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Elevated circulating creatin... ORPHA:81
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis, Palmoplantar erythema ORPHA:2331
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Menkes Disease
Osteomyelitis, Thickened skin, Atypical scarring of skin, Intrauterine growth retardation, Dry skin ORPHA:565
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Failure to thrive, Disproportionate short stature, Hyperkeratosis, Severe postnatal growth retard... OMIM:210710
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Acne, Seborrheic dermatitis OMIM:167100
Chikungunya
Cervical lymphadenopathy, Erythema, Lymphadenopathy, Skin vesicle, Cutaneous photosensitivity, Pe... ORPHA:324625
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema ORPHA:495
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Atypical scarring of skin, Growth delay, Septic arthritis, Dry... ORPHA:642
Ifap Syndrome 2
Perioral erythema OMIM:619016
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Acral ulceration OMIM:256800
Immunodeficiency 56
Panhypogammaglobulinemia, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection OMIM:615207
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
22Q11.2 Deletion Syndrome
Acne, Short stature, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Hypopigmented... ORPHA:567
Autosomal Dominant Hypocalcemia
Dry skin, Eczema ORPHA:428
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Cafe-au-lait spot, Short stature OMIM:616564
Barber-Say Syndrome
Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic nipples, Premature skin wrinkling, Dry... OMIM:209885
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Hepa... ORPHA:2330
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Acantholysis ORPHA:158687
Localized Scleroderma
Erythema ORPHA:90289
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopenia, Incre... OMIM:127550
Scalp-Ear-Nipple Syndrome
Short stature, Thickened skin, Pyelonephritis, Aplasia cutis congenita, Dry skin OMIM:181270
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... ORPHA:160
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Small for gestational ... OMIM:606721
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Jaundice, Cholestasis, Decreased circulating antibody level, Hepatosplenomegaly, He... ORPHA:247598
Helix Syndrome
Hyperparathyroidism, Dry skin OMIM:617671
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... OMIM:181000
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin ORPHA:2092
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Abnormal circulating interleukin concentration, Abnormal pineal melatoni... ORPHA:69665
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Orchitis, Thrombocytopenia, Jaundice, Neutrophilia in presence of i... ORPHA:99826
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Short stature, Osteomyelitis leading to amputation due to slow healing fractures, Growth delay, A... OMIM:256810
Transketolase Deficiency
Proportionate short stature, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Small for gestational age, Prematurel... OMIM:264090
Ablepharon Macrostomia Syndrome
Redundant skin, Growth delay, Excessive wrinkled skin, Thin skin, Dry skin ORPHA:920
Fabry Disease
Short stature, Subcutaneous nodule, Hyperkeratosis, Arthritis, Delayed puberty, Anemia ORPHA:324
Fucosidosis
Failure to thrive, Generalized hyperkeratosis ORPHA:349
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atr... OMIM:278800
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Nevus OMIM:620189
Limb-Mammary Syndrome
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Multiple cafe-au-lait spots, Dry skin... ORPHA:69085
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Severe short stature, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, H... ORPHA:2273
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Choleli... OMIM:603903
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Short stature, Decreased body weight OMIM:266270
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Seborrheic dermatitis OMIM:210210
Woodhouse-Sakati Syndrome
Decreased testicular size, Streak ovary, Scaling skin, Decreased response to growth hormone stimu... ORPHA:3464
Leprechaunism
Postnatal growth retardation, Thickened skin, Hyperkeratosis, Increased circulating renin level, ... ORPHA:508
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Bartsocas-Papas Syndrome 1
Skin tags, Intrauterine growth retardation, Dry skin OMIM:263650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Subcutaneous nodule, Papule ORPHA:79280
Orofaciodigital Syndrome Type 1
Chronic otitis media, Dry skin, Milia, Lip pit ORPHA:2750
Scleromyxedema
Paraproteinemia, Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Moderate postnatal growth retardation OMIM:118650
Cowden Syndrome
Macule, Short stature, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmop... ORPHA:201
Exercise-Induced Malignant Hyperthermia
Dry skin, Elevated circulating creatine kinase concentration, Thrombocytopenia ORPHA:466650
Congenital Analbuminemia
Small for gestational age, Increased circulating antibody level, Obesity ORPHA:86816
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Dry skin, Increased circulating thyroglobulin level OMIM:218700
Chronic Thromboembolic Pulmonary Hypertension
Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Elevated circulating C-reactiv... ORPHA:70591
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Autoimmunity, Pneumonia, Mediastinal lymphadenopathy, Peritonit... ORPHA:1546
Koolen-De Vries Syndrome Due To A Point Mutation
Numerous nevi, Sacral dimple, Small for gestational age, Eczema, Postnatal growth retardation, Hy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Numerous nevi, Sacral dimple, Small for gestational age, Eczema, Postnatal growth retardation, Hy... ORPHA:363958
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Obesity, Failure to thrive, Eczema, Seborrheic dermatitis ORPHA:369950
Corneodermatoosseous Syndrome
Erythema ORPHA:3194
Microphthalmia, Syndromic 9
Neonatal death, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly OMIM:610644
Digeorge Syndrome
Acne, Short stature, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pne... OMIM:188400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Failure to thrive, Short stature, Hyperpigmented papule, Recurrent pneumonia, Acute myelomonocyti... ORPHA:99646
Chand Syndrome
Skin erosion, Commissural lip pit, Dry skin ORPHA:1401
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Rectal abscess, Hy... ORPHA:436252
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Molluscoid ps... OMIM:225400
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Mild postnatal growth retardation, Redundant skin in infancy, Recurrent pneumo... OMIM:150230
Alzahrani-Kuwahara Syndrome
Dry skin, Short stature, Eczema OMIM:619268
Warburg-Cinotti Syndrome
Erythema, Poor wound healing, Sterile abscess OMIM:618175
Relapsing Polychondritis
Erythema, Hepatitis, Purpura ORPHA:728
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Seborrheic dermatitis, Large for gestational age, Ichthyosis OMIM:300868
Scorpion Envenomation
Acute pancreatitis, Erythema, Purpura ORPHA:466677
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Erythema, Abnormal testis morphology ORPHA:2556
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level... ORPHA:355
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis OMIM:615510
Behcet Syndrome
Erythema OMIM:109650
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atrophic scars, Follicular hyperkeratosis, Cutis laxa OMIM:614557
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Thin skin OMIM:200110
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... ORPHA:99829
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Increased circulating antibody level OMIM:606002
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Recurrent infections, Hypocalcemia OMIM:192430
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Patent ductus arteriosus, Annular pancreas OMIM:618162
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
6Q Terminal Deletion Syndrome
Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl... ORPHA:2237
Baller-Gerold Syndrome
Erythema, Anomalous splenoportal venous system OMIM:218600
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Purpura ORPHA:183
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Short stature ORPHA:98907
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... ORPHA:565612
Sympathetic Ophthalmia
Erythema ORPHA:79098
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema, Failure to thrive, Truncal obesity OMIM:612474
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Short stature, Thin skin, Follicular hyperkeratosis ORPHA:536545
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Sarcoidosis
Hemolytic anemia, Parotitis, Eosinophilia, Hypercalcemia, Maculopapular exanthema, Erythema nodos... ORPHA:797
Split Cord Malformation
Skin dimple, Penetrating foot ulcers ORPHA:573278
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Blepharitis, Thin skin OMIM:129900
Proteus Syndrome
Thymus hyperplasia, Epidermal nevus, Cachexia, Splenomegaly, Thickened skin, Subcutaneous nodule,... ORPHA:744
Cysticercosis
Increased circulating antibody level ORPHA:1560
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Blepharitis OMIM:604292
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections OMIM:176690
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin ORPHA:73223
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA ... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Patent ductus arteriosus, Decreased circulating antibody level ORPHA:261552
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Hepatomegaly ORPHA:75565

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 Nfkbia

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 Nfkbia.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Nfkbiatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nfkbiatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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