Gene: Tbk1 MGI:1929658

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TANK-binding kinase 1

Synonyms:

1200008B05Rik

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 Tbk1 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.

Human diseases associated with Tbk1 (5 diseases)
Human diseases predicted to be associated with Tbk1 (1188 diseases)

The table below shows human diseases associated to Tbk1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, ...	ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Meningitis, Herpes simplex encephalitis	OMIM:617900
Amyotrophic Lateral Sclerosis	Xerostomia	ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4		OMIM:616439
Frontotemporal Dementia With Motor Neuron Disease		ORPHA:275872

The table below shows human diseases predicted to be associated to Tbk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,...	ORPHA:169154
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp...	OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ...	OMIM:614470
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Pallor, Splenomegaly	ORPHA:46532
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit...	OMIM:619281
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Sting-Associated Vasculopathy, Infantile-Onset	Skin rash, Pustule, Thrombocytosis, Sparse hair, Periungual erythema, Lymphopenia, Paratracheal l...	OMIM:615934
Immunodeficiency 25	Recurrent herpes, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increa...	OMIM:610163
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Adult Idiopathic Neutropenia	Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:601859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Ichthyosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis m...	OMIM:618495
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ...	OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi...	OMIM:603909
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
Pgm3-Cdg	Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen...	ORPHA:443811
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I...	OMIM:618944
Caspase 8 Deficiency	Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:607271
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Follicular h...	OMIM:617388
Severe Combined Immunodeficiency, X-Linked	T lymphocytopenia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci...	OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio...	ORPHA:276
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,...	OMIM:607594
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro...	ORPHA:521
Immunodeficiency 50	Eczema, Lymphopenia, Neutropenia	OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Increased circulating IgM level, Joint swelling, Leukocytosis, Panniculitis, Increased...	OMIM:617099
Retinohepatoendocrinologic Syndrome	Degenerative liver disease, Pallor	OMIM:268040
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas...	ORPHA:2442
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ...	ORPHA:169160
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, Lymphadenopathy, T ly...	OMIM:606367
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I...	OMIM:615513
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Recurrent skin infections, Recurrent infections, Recurrent ...	OMIM:617744
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Increased circulating IgM level, Sparse hair, Recurrent bacterial...	OMIM:300291
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ...	OMIM:300635
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Hydrops fetalis, Abnormal proportion of CD4-positive T cells, Abnormal serum inter...	ORPHA:3261
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Immunodeficiency 48	Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly, Recurrent...	OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, T lymphocytopenia, Absent tonsils, Increased circulating IgE ...	ORPHA:277
Immunodeficiency 72 With Autoinflammation	Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Herpes simplex encephali...	OMIM:618982
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon...	OMIM:240500
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:613493
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Pneumonia, Eosinophilia	OMIM:617638
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 51	Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre...	OMIM:613953
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Autoimmune Lymphoproliferative Syndrome, Type V	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a...	OMIM:616100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Decreased specific anti-polysa...	OMIM:300853
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia, Recurrent skin infections, Lymphadenopathy, Infl...	ORPHA:499
Immunodeficiency With Hyper-Igm, Type 3	Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne...	OMIM:606843
Hyper-Igd Syndrome	Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Molluscum contagiosu...	OMIM:260920
Chilblain Lupus	Skin rash, Hyperkeratosis, Increased circulating antibody level, Pruritis on hand, Discoid lupus ...	ORPHA:90280
Iga Pemphigus	Pustule, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera...	ORPHA:555905
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco...	OMIM:300636
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos...	ORPHA:331206
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o...	ORPHA:90064
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect...	OMIM:608106
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab...	ORPHA:540
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly...	OMIM:618986
Autosomal Dominant Severe Congenital Neutropenia	Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Recurrent viral infections, Recur...	ORPHA:486
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology	ORPHA:345
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le...	OMIM:614699
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti...	OMIM:619220
Acne Inversa, Familial, 3	Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis	OMIM:613737
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Recurrent infections, Decreased c...	OMIM:616452
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti...	ORPHA:275
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu...	OMIM:616871
Classic Mycosis Fungoides	Skin rash, Pruritus, Abnormality of the nail, Hyperkeratosis, Abnormal lymphocyte morphology, Hep...	ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren...	OMIM:605258
Immunodeficiency 60	Bronchiectasis, Decreased proportion of memory B cells, Decreased basophil count, Ulcerative coli...	OMIM:618394
Wiskott-Aldrich Syndrome, Autosomal Dominant	Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Incr...	OMIM:600903
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Candidiasis, Familial, 2	Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis...	OMIM:212050
Optic Atrophy 9	Pallor	OMIM:616289
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro...	OMIM:308230
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe...	ORPHA:572
Netherton Syndrome	Brittle scalp hair, Allergic rhinitis, Increased circulating IgE level, Erythroderma, Angioedema,...	OMIM:256500
X-Linked Sideroblastic Anemia	Pallor, Elevated hepatic transaminase, Splenomegaly	ORPHA:75563
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec...	OMIM:308240
Immunodeficiency 52	Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB...	OMIM:617514
Felty Syndrome	Rheumatoid arthritis, Neutropenia, Splenomegaly	OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i...	OMIM:608971
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	OMIM:301000
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte...	OMIM:242870
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia...	OMIM:615285
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma	OMIM:244850
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Atopic dermatitis, Palmar pruritus, Pa...	ORPHA:498359
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Sparse axillary hair, Increased circulating IgG level, Hypertrichosis,...	OMIM:256040
Immunodeficiency 70	Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr...	OMIM:618969
Immunodeficiency 27A	Increased circulating IgM level, Thrombocytosis, Increased inflammatory response, Leukocytosis, S...	OMIM:209950
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Benign Cephalic Histiocytosis	Histiocytosis, Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i...	ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent opportunistic infections, T lymphocytopenia, Skin rash, Pustule, Absent natural killer ...	ORPHA:35078
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgG level, Increased circulating IgA level	OMIM:144120
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia	ORPHA:26137
Angiostrongyliasis	Pruritus, Increased circulating IgM level, Unusual CNS infection, Increased circulating specific ...	ORPHA:74
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent...	ORPHA:331235
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Abnormal lymphocyte morphology, Decreased circ...	OMIM:609529
Sweet Syndrome	Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr...	ORPHA:3243
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Autoimmune Hemolytic Anemia, Cold Type	Pallor, Splenomegaly	ORPHA:228312
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym...	OMIM:614700
Hypotrichosis 1	Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey...	OMIM:605389
Insulin-Resistance Syndrome Type B	Skin rash, Hypotriglyceridemia, Enlarged ovaries, Decreased serum complement factor B, Acanthosis...	ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Periorbi...	OMIM:618048
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease...	OMIM:617765
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn...	OMIM:247800
Tularemia	Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Increased...	ORPHA:3392
Odonto-Onycho Dysplasia-Alopecia Syndrome	Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S...	ORPHA:2722
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Lymphoproliferative Syndrome 2	Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ...	OMIM:615122
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy...	OMIM:603552
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Immunodeficiency, Common Variable, 10	Trachyonychia, Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis,...	OMIM:615577
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys...	OMIM:613101
Holoprosencephaly, Recurrent Infections, And Monocytosis	Monocytosis, Recurrent skin infections, Recurrent infections	OMIM:610680
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Neutropenia, Chronic sinusitis	OMIM:613502
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Pruritus, Recurrent fu...	ORPHA:186
Anonychia With Flexural Pigmentation	Anonychia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis	ORPHA:69125
Trimethylaminuria	Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly	OMIM:602079
Evans Syndrome	Epistaxis, Jaundice, Petechiae, Pallor, Bruising susceptibility, Syncope	ORPHA:1959
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu...	OMIM:616576
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy...	ORPHA:505
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Schnitzler Syndrome	Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenom...	ORPHA:37748
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Pallor, Splenomegaly	OMIM:615234
Transcobalamin Deficiency	Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D...	ORPHA:859
Netherton Syndrome	Skin rash, Ichthyosis, Increased circulating IgE level, Abnormal hair morphology, Acanthosis nigr...	ORPHA:634
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Onychomycosis, Palmoplantar hyperkeratosis	OMIM:617574
Breath-Holding Spells	Pallor	OMIM:607578
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Ridged nail, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media...	ORPHA:33355
Acute Lung Injury	Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, I...	ORPHA:178320
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p...	OMIM:312863
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga...	OMIM:102700
Ichthyosis Hystrix Of Curth-Macklin	Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail ...	ORPHA:79503
Omenn Syndrome	Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Erythroderma, Recurrent v...	OMIM:603554
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos...	OMIM:617241
Immunodeficiency 69	Increased circulating ferritin concentration, Skin rash, Thrombocytosis, BCGosis, Leukocytosis, P...	OMIM:618963
Familial Reactive Perforating Collagenosis	Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous...	ORPHA:79147
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Hepatomegaly, Increased circulating IgA level, Recurrent aphthous stomatitis, Lympha...	ORPHA:343
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Elliptocytosis 1	Jaundice, Pallor, Splenomegaly	OMIM:611804
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre...	OMIM:615767
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Acanthosis nigricans, Increased circulating antibody level, Lymphopenia, Panniculitis,...	OMIM:617591
Hypotrichosis Simplex	Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela...	ORPHA:55654
Hypotrichosis 4	Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes	OMIM:146550
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte morphology, Lymphadenopathy...	ORPHA:3162
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus...	OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i...	OMIM:601457
Lichtenstein Syndrome	Hirsutism, Neutropenia, Synophrys, Recurrent infections, Decreased circulating IgA level, Recurre...	OMIM:246550
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level, Hyperkeratosis, Abnormal toenail morphology, Nail dyst...	ORPHA:89843
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia...	OMIM:613011
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Witkop Syndrome	Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair	OMIM:189500
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis, Sparse hair	ORPHA:91132
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation...	OMIM:618108
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Absent toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Ridged nail, Dystrophic to...	ORPHA:89838
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi...	ORPHA:37042
Beta-Thalassemia	Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Pallor, Skin ulcer, Hypertrophic cardiomyo...	ORPHA:848
Porokeratosis Of Mibelli	Hyperkeratosis, Pruritus, Porokeratosis	ORPHA:735
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Immunodeficiency 15A	Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B...	OMIM:618204
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt...	OMIM:612541
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Pallor, Splenomegaly	OMIM:615631
Secondary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Lymphedema, Decreased circulating antibody level, Lymphopenia, Ple...	ORPHA:90363
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Myelofibrosis	Splenomegaly, Pallor, Purpura	OMIM:254450
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Hyperinsulinism Due To Ucp2 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H...	ORPHA:276556
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome...	OMIM:615846
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Focal pan...	ORPHA:276575
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ...	ORPHA:100024
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Atopic dermatitis, Thick eyebrow, Sparse hair	OMIM:606242
Leishmaniasis	Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope...	ORPHA:507
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h...	OMIM:618116
Multiple Myeloma	Decreased circulating antibody level, Elevated circulating creatinine concentration, Pleural effu...	ORPHA:29073
Hb Bart'S Hydrops Fetalis	Pericarditis, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor	ORPHA:163596
Cernunnos-Xlf Deficiency	T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,...	ORPHA:169079
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, P...	OMIM:144200
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly	OMIM:619175
Senior-Loken Syndrome 8	Hepatic cysts, Pancreatic cysts, Pallor	OMIM:616307
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ...	OMIM:617780
Rothmund-Thomson Syndrome, Type 1	Sparse hair, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Absent eyebrow, Thin nail,...	OMIM:618625
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased specific antibody response to vaccination, Decreased proportion of CD4-positive helper ...	ORPHA:221139
Adult Acute Respiratory Distress Syndrome	Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secretion, Incr...	ORPHA:70578
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C...	OMIM:313900
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis, Ridged nail	OMIM:101900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon...	OMIM:153600
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Ascites, Anemia, Alopecia, Lympha...	ORPHA:100025
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren...	OMIM:137100
Hypotrichosis 7	Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes	OMIM:604379
Hypotrichosis 11	Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th...	OMIM:615059
Autosomal Agammaglobulinemia	Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Meningitis, Hepatiti...	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Hypohidrosis, Cirrhosis, Peau d'orange, Decreased specific a...	OMIM:614576
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Alopec...	OMIM:618282
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp...	ORPHA:911
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pallor	OMIM:613839
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas...	OMIM:611926
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis...	OMIM:601495
X-Linked Agammaglobulinemia	Abnormality of the lymphatic system, Hypocalcemia, Recurrent pneumonia, Skin rash, Chronic otitis...	ORPHA:47
Ataxia-Telangiectasia	Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Abnormal hair morpholo...	OMIM:208900
Optic Atrophy 1	Pallor	OMIM:165500
Cole Disease	Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma	OMIM:615522
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Periodontitis, Sparse scalp hair, Alopecia universalis, Sparse body ...	ORPHA:1008
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Prolidase Deficiency	Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Facial...	OMIM:170100
Immunodeficiency 47	Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona...	OMIM:300972
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Synophrys, Decreased circulating IgA level, Decreased circulating total IgM, Decreased...	OMIM:300861
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly, Rec...	OMIM:611762
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 13	Woolly hair, Sparse and thin eyebrow, Sparse hair	OMIM:615896
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Pallor, H...	ORPHA:276580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Recurrent infections, Elevated circulating creatine kinase concentration, Eczema, L...	OMIM:615895
Immunodeficiency 55	Ichthyosis, Neutropenia, Recurrent infections, Eczema, Recurrent skin infections, Lymphadenopathy	OMIM:617827
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E...	OMIM:304790
Cinca Syndrome	Skin rash, Leukocytosis, Lymphedema, Uveitis, Lymphadenopathy, Meningitis, Elevated circulating C...	OMIM:607115
Hypotrichosis 10	Sparse body hair, Sparse eyebrow, Sparse eyelashes	OMIM:614238
Griscelli Syndrome	Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Decreased cir...	ORPHA:381
Insulin Autoimmune Syndrome	Increased circulating antibody level, Acanthosis nigricans, Arthralgia/arthritis	ORPHA:411593
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Adult-Onset Still Disease	Skin rash, Pruritus, Pericarditis, Joint swelling, Leukocytosis, Myocarditis, Generalized lymphad...	ORPHA:829
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur...	OMIM:618523
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane...	OMIM:615607
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Skin rash, Pancytopenia, Thrombocytopenia, Reduced ...	OMIM:616050
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis	OMIM:615598
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Perifolliculitis, Alopecia	OMIM:260910
Immunodeficiency 35	Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre...	OMIM:611521
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Elevated circul...	OMIM:604416
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Abnormality of neutrophils, Decreased circulating antibody level, Abn...	ORPHA:2585
Psoriasis 14, Pustular	Pustule, Leukocytosis, Cholangitis, Elevated circulating C-reactive protein concentration, Oligoa...	OMIM:614204
Erythrokeratodermia Variabilis	Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,...	ORPHA:317
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo...	OMIM:618806
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor, Splenomegaly	ORPHA:90037
Immunodeficiency 21	Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni...	OMIM:614172
Ulerythema Ophryogenesis	Follicular hyperkeratosis, Abnormal eyebrow morphology, Alopecia, Inflammatory abnormality of the...	ORPHA:3406
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Myositis, C...	ORPHA:69126
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:270220
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616400
Dowling-Degos Disease 2	Follicular hyperkeratosis, Hyperkeratotic papule	OMIM:615327
Mucopolysaccharidosis-Plus Syndrome	Hirsutism, Macrovesicular hepatic steatosis, Coarse hair, Neutropenia, Hypoalbuminemia, Leukopeni...	OMIM:617303
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss	Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body...	OMIM:617294
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi...	ORPHA:79124
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R...	OMIM:614493
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Skin rash, Pustule, Joint swelling, Hyperkeratosis, Stomatitis, Hepatomegaly, Elevated circulatin...	OMIM:612852
Trichothiodystrophy 1, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Small nail, Sparse hair, Trichorrhexis nodosa, ...	OMIM:601675
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron...	OMIM:150550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Ectodermal Dysplasia 6, Hair/Nail Type	Dystrophic toenail, Sparse hair, Alopecia, Thin toenail	OMIM:614928
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized hyperkeratosis, Palmoplantar keratoderma	ORPHA:737
Roifman Syndrome	Prominent eyelashes, Decreased circulating antibody level, Recurrent otitis media, Hyperconvex na...	ORPHA:353298
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ...	ORPHA:98849
Prolidase Deficiency	Low anterior hairline, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Thin skin, Hirsutism, ...	ORPHA:742
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis, Increased circulating IgE level	OMIM:147050
Primary Myelofibrosis	Abnormal bleeding, Purpura, Increased circulating lactate dehydrogenase concentration, Hepatomega...	ORPHA:824
Beta-Thalassemia Intermedia	Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func...	ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Pallor	OMIM:194380
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Bloom Syndrome	Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Otitis media, Rec...	ORPHA:125
Epidermolysis Bullosa Simplex, Localized	Hyperkeratosis	OMIM:131800
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hypohidrosis, Bronchiectasis, Hyperkeratosis, Broad eyebrow, Colitis, Increased circulating inter...	OMIM:301220
Cerebellar Ataxia And Ectodermal Dysplasia	Sparse hair, Alopecia	OMIM:212835
Lamellar Ichthyosis	Pruritus, Ichthyosis, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic...	ORPHA:313
Acquired Ichthyosis	Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Recurrent skin infections	ORPHA:454
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki...	OMIM:242860
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Alopecia Antibody Deficiency	Sparse hair, Decreased circulating antibody level, Abnormal eyelash morphology, Aplasia/Hypoplasi...	ORPHA:1006
Cirrhosis, Familial	Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis	OMIM:118900
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Perifolliculitis, Chronic furunculosis, Follicular hyperkeratosis, Recurrent cutaneous abscess fo...	OMIM:613736
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope	ORPHA:324575
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse hair, Thin skin, Sparse body hair, Eczema, Abnormal fingernail morphology	ORPHA:1810
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan	Sparse hair, Alopecia	OMIM:203600
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Immunodeficiency 36	Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp...	OMIM:616005
Immunodeficiency 23	Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Recurrent sta...	OMIM:615816
Thymoma	Skin rash, Hemolytic anemia, Pericarditis, Decreased circulating antibody level, Abnormal lymphoc...	ORPHA:99867
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Post-partum hemorrhage, Oral cavity bleeding, Melena, Pallor, Ging...	ORPHA:98870
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest	ORPHA:49827
Purine Nucleoside Phosphorylase Deficiency	Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi...	OMIM:613179
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hypohidrosis, Nail dysplasia, Hepatomegaly, Erysipelas, Alopecia, Elevated circulating creatine k...	OMIM:615704
Bloom Syndrome	Bronchiectasis, Recurrent upper respiratory tract infections, Malar rash, Hypertrichosis, Decreas...	OMIM:210900
Popov-Chang syndrome	Hyperkeratosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis media, Coarse...	OMIM:618428
Neonatal Lupus Erythematosus	Skin rash, Parakeratosis, Hemolytic anemia, Hyperkeratosis, Neutropenia, Maculopapular exanthema,...	ORPHA:398124
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Nail dysplasia, Alopecia totalis, Sclerodactyly, Nail dystrophy, Palmoplantar hyp...	OMIM:212360
Immunodeficiency 58	Seborrheic dermatitis, Cutaneous abscess, Ichthyosis, Bronchiectasis, Helicobacter pylori infecti...	OMIM:618131
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Sparse hair, Palmoplantar keratoderma, Acantholysis, Hypernatremia, Erythroderma...	OMIM:615508
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy	ORPHA:79399
Boutonneuse Fever	Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ...	ORPHA:83313
Cold Agglutinin Disease	Hepatomegaly, Pallor, Splenomegaly	ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Intracranial hemorrhage, Hepatomegaly, Splenomegaly, Bruising susceptibi...	ORPHA:3226
Juvenile Idiopathic Arthritis	Skin rash, Nail pits, Abnormality of the nail, Generalized hyperkeratosis, Joint swelling, Perica...	ORPHA:92
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring al...	OMIM:602540
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Mal De Meleda	Ichthyosis, Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Hyperkeratosis with er...	ORPHA:87503
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Poikiloderma With Neutropenia	Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent...	OMIM:604173
Angioma Serpiginosum, X-Linked	Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy	OMIM:300652
Basan Syndrome	Hyperkeratosis	OMIM:129200
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczema	OMIM:618985
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Omenn Syndrome	Pruritus, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morph...	ORPHA:39041
Psoriasis-Related Juvenile Idiopathic Arthritis	Skin rash, Nail pits, Pruritus, Onycholysis, Iridocyclitis, Iritis, Uveitis, Abnormality of tumor...	ORPHA:85436
Isolated Agammaglobulinemia	Abnormality of the lymphatic system, Skin rash, Abnormality of neutrophils, Abnormal lymphocyte m...	ORPHA:229717
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Bathing Suit Ichthyosis	Hypohidrosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Erythrod...	ORPHA:100976
Cholestasis-Lymphedema Syndrome	Cirrhosis, Lymphedema, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatom...	OMIM:214900
Autoimmune Hemolytic Anemia	Arrhythmia, Pallor, Congestive heart failure, Splenomegaly	ORPHA:98375
Bazex Syndrome	Pruritus, Yellow nails, Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Edema, An...	ORPHA:166113
Mental Retardation, Autosomal Recessive 5	Sparse hair, Synophrys, Thick eyebrow, Elevated circulating creatine kinase concentration, Eczema	OMIM:611091
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Osteomyelitis, Pruritus, Increased circulating IgE level, Abnormal hair morphology, Ch...	ORPHA:2314
Bazex Syndrome	Hypohidrosis, Atopic dermatitis, Acne inversa, Sparse hair, Coarse hair, Eczema, Trichorrhexis no...	OMIM:301845
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent infections, Decreased circ...	OMIM:614878
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona...	OMIM:243700
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Congestive heart failure, Tachycardia, Splenomegaly, Pallor	ORPHA:90033
Mevalonic Aciduria	Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Fluctuating splenomegaly, T...	OMIM:610377
Ectodermal Dysplasia 9, Hair/Nail Type	Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy	OMIM:614931
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Decreased circulating IgA...	OMIM:617062
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular ...	OMIM:613576
Pili Torti-Onychodysplasia Syndrome	Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Absent eyebrow, Generalized keratosi...	ORPHA:2890
Congenital Disorder Of Glycosylation, Type Iq	Ichthyosis, Microcytic anemia, Hyperkeratosis, Hypertrichosis, Eczema	OMIM:612379
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Pleural effusion, Ly...	OMIM:618935
American Trypanosomiasis	Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocarditis, Pallor, Cardiomyop...	ORPHA:3386
Quinquaud Folliculitis Decalvans	Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in...	ORPHA:346
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract...	OMIM:615952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse...	OMIM:600802
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Ichthyosis, Acanthosis nigricans, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Jau...	ORPHA:59303
Thrombocytopenia 5	Thrombocytopenia, Neutropenia, Anemia	OMIM:616216
Congenital Enterovirus Infection	Polyhydramnios, Sepsis, Skin rash, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology,...	ORPHA:292
Trichohepatoenteric Syndrome 2	Cirrhosis, Sparse hair, Uncombable hair, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis, ...	OMIM:614602
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Ichthyosis, Congenital, Autosomal Recessive 11	Hypohidrosis, Sparse hair, Hyperkeratosis, Curly hair, Congenital ichthyosiform erythroderma, Spa...	OMIM:602400
Olmsted Syndrome 2	Pruritus, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Alopecia universalis,...	OMIM:619208
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence...	ORPHA:231154
Non-Functioning Paraganglioma	Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin...	ORPHA:94080
Lipodystrophy, Congenital Generalized, Type 4	Acanthosis nigricans, Hepatic steatosis, Hirsutism, Hepatomegaly, Hypertriglyceridemia, Recurrent...	OMIM:613327
Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat...	ORPHA:263455
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Increased total bilirubin, Skin rash, Pancytopenia,...	OMIM:603553
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Pericarditis, Joint swelling, Pleural effusion, Hepatomegaly, Juvenile rheumatoid arth...	ORPHA:85414
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus, Nail dystrophy	OMIM:131850
Igg4-Related Aortitis	Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ...	ORPHA:449400
Autoimmune Hepatitis	Increased total bilirubin, Acute hepatitis, Cirrhosis, Inflammation of the large intestine, Viral...	ORPHA:2137
Trichothiodystrophy 5, Nonphotosensitive	Sparse hair, Decreased circulating antibody level, Tiger tail banding, Slow-growing hair, Recurre...	OMIM:300953
Papillon-Lefèvre Syndrome	Generalized hirsutism, Severe periodontitis, Pustule, Abnormality of the nail, Palmoplantar hyper...	ORPHA:678
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re...	OMIM:619374
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Recurrent infections, Splenomegaly	OMIM:605309
Immunodeficiency 76	T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, Recurrent bronchiolitis, B lymphocy...	OMIM:619164
Olmsted Syndrome 1	Pruritus, Sparse hair, Palmoplantar keratoderma, Nail dysplasia, Subungual hyperkeratosis, Hyperh...	OMIM:614594
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Peeling Skin Syndrome 1	Pruritus, Onycholysis, Increased circulating IgE level, Brittle hair, Abnormality of hair texture	OMIM:270300
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia of scalp, Alopecia	OMIM:136300
Acrokeratoelastoidosis Of Costa	Hyperkeratosis, Abnormality of the nail, Hyperhidrosis, Acrokeratosis	ORPHA:38
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Hepatomeg...	ORPHA:98848
Keratoderma Hereditarium Mutilans	Ichthyosis, Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Alope...	ORPHA:494
Olmsted Syndrome, X-Linked	Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopec...	OMIM:300918
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly, Chilblains	OMIM:610329
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Ridged fingernail, Fingernai...	ORPHA:2251
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Inflammation of the large intestine, Chronic gastritis, Neutropenia, Colitis, Recurrent infection...	OMIM:608809
Monilethrix	Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S...	ORPHA:573
Good Syndrome	Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Aplasia...	ORPHA:169105
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter...	ORPHA:167
Meige Disease	Edema of the dorsum of hands, Lymphedema, Pleural effusion, Lymph node hypoplasia, Recurrent bact...	ORPHA:90186
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hypohidrosis, Sparse hair, Defective production of NFKB1-dependent c...	OMIM:612132
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Anemi...	OMIM:615688
Ichthyosis, Congenital, Autosomal Recessive 2	Hypohidrosis, Hypergranulosis, Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hy...	OMIM:242100
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Hypotrichosis 6	Pruritus, Sparse hair, Follicular hyperkeratosis, Sparse and thin eyebrow, Brittle hair, Pili tor...	OMIM:607903
Epidermolytic Palmoplantar Keratoderma	Palmoplantar keratoderma, Localized epidermolytic hyperkeratosis, Hyperhidrosis, Eczema, Abnormal...	ORPHA:2199
Pneumocystosis	Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Pleural...	ORPHA:723
Pachyonychia Congenita 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy	OMIM:615728
Majeed Syndrome	Skin rash, Joint swelling, Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate product...	OMIM:609628
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Erythroderma, Nail dysplasia, Congenital ichthyosiform erythroderma, Alopecia, Parak...	OMIM:242300
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Sparse hair, Alopecia	OMIM:275400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Q Fever	Cryoglobulinemia, Pericarditis, Pericardial effusion, Pneumonia, Maculopapular exanthema, Anemia,...	ORPHA:781
Ichthyosis With Confetti	Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis	OMIM:609165
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple...	OMIM:612840
Transgrediens Et Progrediens Palmoplantar Keratoderma	Generalized hyperkeratosis, Palmoplantar keratoderma, Thin fingernail, Hyperhidrosis, Alopecia	ORPHA:495
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor	ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Chronic hemolytic anemia, Hydrops fetalis, Reticulo...	ORPHA:766
Zika Virus Disease	Skin rash, Pruritus, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thromboc...	ORPHA:448237
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Gaucher Disease Type 1	Cirrhosis, Increased circulating antibody level, Pericardial effusion, Pedal edema, Biliary tract...	ORPHA:77259
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Leukonychia, Visceromegaly, P...	ORPHA:2905
Immunodeficiency 59 And Hypoglycemia	Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, He...	OMIM:233600
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hy...	OMIM:613385
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Elevated circulating C-reactive protein concent...	OMIM:120100
Cyclic Neutropenia	Peritonitis, Recurrent tonsillitis, Opportunistic infection, Decreased eosinophil count, Tooth ab...	ORPHA:2686
Pyoderma Gangrenosum	Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le...	ORPHA:48104
Lipoid Proteinosis	Pustule, Hyperkeratosis, Alopecia of scalp, Thickened skin, Recurrent respiratory infections, Acne	ORPHA:530
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope...	OMIM:300835
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormality of the periungual region, Recurrent bronchitis, Autoimmune ...	ORPHA:293978
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, Recurrent Aspergillus infections, Autoimmune thrombocytopenia, Recurrent upper ...	ORPHA:391487
Intermediate Generalized Junctional Epidermolysis Bullosa	Anonychia, Palmoplantar keratoderma, Scarring alopecia of scalp, Anemia, Sparse body hair, Nail d...	ORPHA:79402
Chromomycosis	Pruritus, Hyperparakeratosis, Hyperkeratosis, Lymphedema, Hyperkeratotic papule, Predominantly lo...	ORPHA:182
Pityriasis Rubra Pilaris	Pustule, Pruritus, Abnormality of the nail, Ichthyosis, Palmoplantar keratoderma, Erythroderma, S...	ORPHA:2897
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Ab...	ORPHA:1818
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor	OMIM:611590
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Long eyelashes, Recurrent bronchiolitis, Dehydration, Edema, Recurrent pneumonia	OMIM:616069
Coffin-Siris Syndrome 8	Sparse scalp hair, Eczema, Thick eyebrow, Long eyelashes	OMIM:618362
Schopf-Schulz-Passarge Syndrome	Small nail, Sparse hair, Poroma, Onycholysis, Palmoplantar keratoderma, Ridged nail, Apocrine hid...	OMIM:224750
Bacterial Toxic-Shock Syndrome	Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur...	ORPHA:36234
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Cinca Syndrome	Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur...	ORPHA:1451
Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quanti...	ORPHA:238468
Noonan Syndrome 8	Polyhydramnios, Hyperkeratosis, Webbed neck, Curly hair, Pleural effusion, Left ventricular hyper...	OMIM:615355
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Elevated creatine kin...	ORPHA:284426
Smith-Kingsmore Syndrome	Thrombocytopenia, Curly hair, Decreased circulating IgA level	OMIM:616638
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Parakeratosis, Wooll...	OMIM:615821
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypercholesterolemia, Acanthosis nigricans, Hepatic steatosis, Hirsutism, Hepatomeg...	OMIM:612526
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au...	OMIM:233710
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Elevated circulating creatinine concentration, Decreased serum complement C4, Synoviti...	ORPHA:567544
Neutrophilic Dermatosis, Acute Febrile	Panniculitis, Increased circulating interleukin 6, Cystic acne, Elevated circulating C-reactive p...	OMIM:608068
Aspergillosis	Osteomyelitis, Increased circulating IgE level, Bronchiectasis, Pleural effusion, Unusual CNS inf...	ORPHA:1163
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Paronychia, Blepharitis, Onychogryposis	OMIM:614328
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Palmoplantar Keratoderma And Congenital Alopecia 1	Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Nai...	OMIM:104100
Cronkhite-Canada Syndrome	Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Lymphedema, Hepatomegaly, Splenomegaly, ...	ORPHA:2930
Bone Marrow Failure Syndrome 3	Small nail, Sparse hair, Exocrine pancreatic insufficiency, Hyperkeratosis, Pancytopenia, Acute m...	OMIM:617052
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Thyroiditis, Stomatitis, Decreased circulat...	OMIM:212750
Hereditary Spherocytosis	Restrictive cardiomyopathy, Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Skin ulcer	ORPHA:822
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Abnormality of the nail, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail...	OMIM:308800
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Abnormal hair morphology	ORPHA:222
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Fair hair, Eczema, Scleroderma	OMIM:261600
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Pallor	OMIM:246400
Hypocomplementemic Urticarial Vasculitis	Skin rash, Pruritus, Pleural effusion, Pericardial effusion, Uveitis, Hepatomegaly, Meningitis, C...	ORPHA:36412
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair	Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:616901
Majeed Syndrome	Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, H...	ORPHA:77297
Aregenerative Anemia	Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ...	ORPHA:101096
Graft Versus Host Disease	Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the...	ORPHA:39812
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au...	OMIM:233690
Dominant Beta-Thalassemia	Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Chronic hepatitis, S...	ORPHA:231226
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma	OMIM:617525
Felty Syndrome	Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymphadenopathy...	ORPHA:47612
Pediatric Systemic Lupus Erythematosus	Skin rash, Microangiopathic hemolytic anemia, Pleural effusion, Lymphopenia, Decreased serum comp...	ORPHA:93552
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Panniculitis, Facial edema, Pancy...	OMIM:618398
Monilethrix	Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy,...	OMIM:158000
Transcobalamin Ii Deficiency	Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:275350
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Skin rash, Pruritus, Palmoplantar pustulosis, Edema, Elevate...	ORPHA:324964
Cystic Echinococcosis	Invasive parasitic infection, Peritoneal abscess, Increased circulating antibody level, Hepatic c...	ORPHA:400
Amyloidosis, Familial Visceral	Skin rash, Cholestasis, Hepatomegaly, Edema, Splenomegaly	OMIM:105200
Trichodysplasia-Xeroderma	Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa...	OMIM:190360
Filippi Syndrome	Sparse hair, Hypertrichosis, Frontal hirsutism	OMIM:272440
Rare Cutaneous Lupus Erythematosus	Abnormality of the periungual region, Pterygium of nails, Leukonychia, Maculopapular exanthema, F...	ORPHA:535
Refractory Celiac Disease	Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Inflammatory abnormality...	ORPHA:398063
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the eye	ORPHA:816
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Recurrent viral infections, Thrombocytopenia, Alopecia, Eczema, Ps...	OMIM:617443
C3 Glomerulopathy	Elevated circulating creatinine concentration, Decreased serum complement C4, Membranoproliferati...	ORPHA:329918
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Car T Cell Therapy-Associated Cytokine Release Syndrome	Skin rash, Increased serum interferon-gamma level, Abnormality of interleukin secretion, Increase...	ORPHA:542323
Pseudoprogeria Syndrome	Sparse hair, Absent eyelashes, Thin skin, Absent eyebrow, Sparse and thin eyebrow, Alopecia	ORPHA:2985
Mixed Connective Tissue Disease	Skin rash, Hemolytic anemia, Pericarditis, Joint swelling, Hepatomegaly, Meningitis, Xerostomia, ...	ORPHA:809
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse hair, Leukonychia, Angular cheilitis, Sparse axillary hair, Sparse scalp h...	OMIM:613102
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Abnormality of mesentery morphology, Pericarditis, Interstitial...	ORPHA:449395
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Parakeratosis, Congenital n...	OMIM:612281
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Erythroderma, Dehydration, Congenital ichthyosiform erythroderma, Rec...	ORPHA:457

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