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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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