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Gene: Tbk1 MGI:1929658

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
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
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... OMIM:615592
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperp... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 25
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of the large i... ORPHA:98813
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash... OMIM:615934
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level, Recurrent infections OMIM:235900
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, El... OMIM:619644
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 50
Lymphopenia, Eczema, Neutropenia OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Trichothiodystrophy 3, Photosensitive
Brittle hair, Increased circulating IgA level, Abdominal adhesions, Recurrent infections, Ichthyo... OMIM:616395
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythrode... ORPHA:169160
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... ORPHA:3261
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Alopecia univer... OMIM:606367
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect... OMIM:300635
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos... OMIM:618282
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... ORPHA:90368
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Abnorma... OMIM:212050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... OMIM:260920
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Lymp... OMIM:300291
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Rec... OMIM:256500
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology ORPHA:345
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... OMIM:618394
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Lymphadenopathy, Hyperk... ORPHA:2584
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... OMIM:608971
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Persistent EBV viremia, De... OMIM:619510
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... ORPHA:397596
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palm... ORPHA:498359
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In... OMIM:301000
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Unusual CNS infection, Hypereosinophilia, Increased ci... ORPHA:74
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... OMIM:209950
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Mediastinal lymphadenopathy, C... ORPHA:3392
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... OMIM:620282
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Onychomycosis OMIM:617574
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Peripheral Cone Dystrophy
Pallor OMIM:609021
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Alopecia, Skin rash, Pneumonia, Decreased circulating c... ORPHA:2298
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... OMIM:615285
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Pruritus, Ja... ORPHA:186
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia to... OMIM:615577
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Skin rash, Eczema, Sparse eyelashes, Sparse ... ORPHA:634
Breath-Holding Spells
Pallor OMIM:607578
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Vulvovaginal Gingival Syndrome
Pruritus, Ridged nail, Parakeratosis, Abnormality of tumor necrosis factor secretion ORPHA:83453
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Increased circulating ferritin concentratio... OMIM:603552
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circula... ORPHA:37748
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Dehydration, Dec... ORPHA:33355
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... OMIM:617744
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Spa... OMIM:604173
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent... ORPHA:343
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... OMIM:613101
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin... OMIM:620210
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... OMIM:612541
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Rec... OMIM:615122
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Hypoalbuminemia, Hypocalcemia, Decreased proportion of CD3-positive T... ORPHA:90362
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... OMIM:615767
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Hyperkeratosis, Nail dystrophy, Abnormal toenail morph... ORPHA:89843
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Auto... OMIM:616576
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Periorbital edema, Splenomega... OMIM:617591
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Sézary Syndrome
Hepatomegaly, Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenop... ORPHA:3162
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, BCGosis, Leu... OMIM:618963
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... OMIM:615758
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Acrokeratosis Verruciformis
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acrokeratosis OMIM:101900
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... ORPHA:70578
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... OMIM:615598
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho... OMIM:601457
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... OMIM:618625
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f... OMIM:614576
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Optic Atrophy 1
Pallor OMIM:165500
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration, Long ... OMIM:616069
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Palmoplantar ... OMIM:270300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... OMIM:300861
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascite... ORPHA:100025
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Recurrent ea... ORPHA:221139
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly OMIM:619175
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Pall... OMIM:266200
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Crusting erythematous ... OMIM:170100
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Decreased ... OMIM:620321
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... OMIM:618116
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... OMIM:304790
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Insulin Autoimmune Syndrome
Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infect... OMIM:603554
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... ORPHA:158048
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis... ORPHA:317
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Ulerythema Ophryogenesis
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow ORPHA:3406
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... OMIM:616050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactiv... OMIM:614204
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko... OMIM:607115
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Splenomeg... ORPHA:231222
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... ORPHA:824
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con... OMIM:612852
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Elevated circul... ORPHA:829
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Prolidase Deficiency
Recurrent respiratory infections, Recurrent cystitis, Hepatomegaly, Abnormal fingernail morpholog... ORPHA:742
Lamellar Ichthyosis
Recurrent respiratory infections, Pruritus, Sepsis, Dehydration, Ichthyosis, Hyperkeratosis, Spar... ORPHA:313
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Sepsis, Leukopenia, Coarse hair, Hypoalbuminemia, Macrovesicula... OMIM:617303
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Recurrent infections, Hyperkeratosis, Keratoconjunctiviti... OMIM:601675
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Roifman Syndrome
Eczema, Hyperconvex nail, Eosinophilia, Recurrent pneumonia, Prominent eyelashes, Decreased circu... ORPHA:353298
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Hypohidro... OMIM:301220
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... ORPHA:98870
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Alopecia Antibody Deficiency
Recurrent respiratory infections, Abnormal eyelash morphology, Decreased circulating antibody lev... ORPHA:1006
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Sclerode... ORPHA:90363
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Bloom Syndrome
Recurrent herpes, Severe varicella zoster infection, Paronychia, Uveitis, Otitis media, Decreased... ORPHA:125
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ecz... OMIM:615816
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Car... ORPHA:79330
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc... OMIM:212360
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... OMIM:301078
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... ORPHA:79078
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Pruritus, Meningitis, Thrombocytopenia, Increased circ... ORPHA:448237
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c... OMIM:208900
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Parakeratosis, Skin rash, Aplastic anemia, Maculopapular exanthem... ORPHA:398124
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage, Pallor, Bruising su... ORPHA:3226
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... ORPHA:83313
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... OMIM:615704
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... OMIM:242150
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor OMIM:613839
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair ORPHA:1810
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythr... OMIM:242300
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... ORPHA:85436
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... OMIM:618131
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor ORPHA:90033
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu... OMIM:607626
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... ORPHA:59303
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Edema, Pruritus, Splenomegaly, Leukocytosis, Thi... ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... OMIM:613179
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections OMIM:618985
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bull... OMIM:613576
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Sparse scalp hair, Recurrent respiratory infections, Hepatomegaly, Defective producti... OMIM:612132
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Hypohidrosis, Ichthyosis, N... ORPHA:100976
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... ORPHA:166113
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... ORPHA:2890
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... ORPHA:2199
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnor... ORPHA:2314
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt... ORPHA:3386
Hemophagocytic Lymphohistiocytosis, Familial, 2
Edema, Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomega... OMIM:603553
Alg12-Cdg
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... ORPHA:79324
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... OMIM:615952
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Intellectual Developmental Disorder, Autosomal Recessive 5
Eczema, Elevated circulating creatine kinase concentration, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp... ORPHA:79395
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Neonatal hyperbilirubinemia ORPHA:3363
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Pallor ORPHA:99931
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... ORPHA:346
Proteus Syndrome
Hyperkeratosis, Splenomegaly, Lymphangioma OMIM:176920
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Lymphedema, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, ... OMIM:214900
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... OMIM:301845
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti... ORPHA:723
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Recurrent in... OMIM:300953
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... ORPHA:678
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Sepsis, Recurrent cutaneous... ORPHA:477
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Q Fever
Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul... ORPHA:781
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor ORPHA:75564
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Perica... ORPHA:77259
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Microcytic anemia, Hyperkeratosis, Ichthyosis, Hypertrichosis OMIM:612379
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... ORPHA:391487
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Edema, Large clumps of pigment irregularly distributed along... ORPHA:167
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, E... OMIM:608649
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair... ORPHA:79402
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... ORPHA:247353
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Portal hypertension, Hypersplenism,... OMIM:613385
Poems Syndrome
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Lymphad... ORPHA:2905
Lipoid Proteinosis
Recurrent respiratory infections, Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... ORPHA:98848
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Splenome... OMIM:615895
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Meningitis, Increased circulating I... ORPHA:1163
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ... ORPHA:182
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Noonan Syndrome 8
Curly hair, Eczema, Polyhydramnios, Hyperkeratosis, Webbed neck, Left ventricular hypertrophy, Pl... OMIM:615355
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Hyperammonemia, Aspiration pneumonia, Neutropenia, Sparse hair, Oligohydramnios OMIM:618253
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Colitis, Uncombable hair, Ci... OMIM:614602
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Hypohidrosis, Aplasia/H... ORPHA:238468
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... OMIM:617052
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i... ORPHA:2686
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Recurrent infections, Decreased circulating total IgM, Nail dystrophy... OMIM:620040
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Paronychia, Increased circulating IgE level, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Retinitis Pigmentosa 51
Pallor OMIM:613464
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... OMIM:619858
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Sepsis, Hepatitis, Leukopenia, Increased circulating... ORPHA:319218
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stom... OMIM:212750
B4Galt1-Cdg
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:79332
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Dominant Beta-Thalassemia
Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Splenomega... ORPHA:231226
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Even-Plus Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse h... OMIM:616854
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Splenom... ORPHA:2930
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Long eyelashes, ... ORPHA:3051
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh... ORPHA:1304
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... OMIM:210900
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Severe... ORPHA:36234
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... OMIM:615821
Sjögren-Larsson Syndrome
Hyperkeratosis, Inflammatory abnormality of the eye, Ichthyosis ORPHA:816
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... OMIM:242700
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Unusual infection, Ab... ORPHA:400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Harlequin Ichthyosis
Recurrent respiratory infections, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythrode... ORPHA:457
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Trichohepatoenteric Syndrome 1
Brittle hair, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Incre... OMIM:222470
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl... ORPHA:77297
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Le... OMIM:308300
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Hawkinsinuria
Sparse hair, Abnormal circulating tyrosine concentration, Fine hair ORPHA:2118
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hypohidrosis, Hyperke... OMIM:242100
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... ORPHA:33226
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, Dystrophic... OMIM:308800
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... ORPHA:312
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Smith-Kingsmore Syndrome
Curly hair, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... ORPHA:329918
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy... ORPHA:398063
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Pruritus, Meningitis, Splenomegaly, Pericardial effusion, ... ORPHA:36412
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect... OMIM:617443
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Lymp... ORPHA:93552
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Decreased live... ORPHA:90051
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... OMIM:148700
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis ORPHA:525
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair ORPHA:2985
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa... OMIM:615846
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... OMIM:148210
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Severe infection ORPHA:206594
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardiomyopat... ORPHA:231214
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... OMIM:612281
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... OMIM:612301
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Edema, Hypocalcemia, Meningitis, Abnormality o... ORPHA:544482
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot, Jaundice, Abnormal circulatin... ORPHA:69665
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt... OMIM:610768
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Lymphad... OMIM:306400
Congenital Disorder Of Glycosylation, Type Ig
Edema, Polyhydramnios, Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreas... OMIM:607143
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Hepatomegaly, Myocardit... ORPHA:809
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis OMIM:105200
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal fingern... ORPHA:1334
Rothmund-Thomson Syndrome
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis,... ORPHA:2909
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash, Thin skin, Hypohidrosis ORPHA:1658
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... ORPHA:420741
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Hypoalbuminem... OMIM:212065
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level, Long eyelash... OMIM:606056
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Fine hai... OMIM:129400
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... OMIM:601495
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail dyspla... ORPHA:1660
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Analbuminemia
Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Incr... ORPHA:86816
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... ORPHA:171851
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair, Hypophosphatemia ORPHA:2611
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:615023
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnorm... ORPHA:2796
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thick hair, Thrombocytopenia, Thickened skin, Sepsis, Hepatospl... ORPHA:505248
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Edema, Polyhydramnios, Low posterior... OMIM:613224
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Cirrhos... ORPHA:79278
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papu... ORPHA:38
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... OMIM:158310
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Retinitis Pigmentosa 75
Pallor OMIM:617023
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, ... ORPHA:470
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, E... OMIM:620005
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1839
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated ... OMIM:302960
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Abnormality of the lymphatic system, Sepsis, Septic... ORPHA:36237
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ... OMIM:127550
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Webbed neck, Hyperhidrosis OMIM:615279
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Hypergra... OMIM:257980
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Splenomegaly, At... OMIM:115150
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck OMIM:613707
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc... OMIM:222700
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... ORPHA:20
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Recurrent herpes, Pancytopenia, Eczema, Thickened skin, Atopic dermatitis, Recurrent ... OMIM:620331
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis, Neonatal de... OMIM:620014
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Bone marrow hypo... ORPHA:391
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... ORPHA:50918
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Dravet Syndrome
Pallor ORPHA:33069
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Polyhydramnios, Palmoplantar hyperkeratosis, Hyperh... OMIM:615280
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Acute leukemia, Hypohidrosis ORPHA:281090
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, ... ORPHA:1775
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Polyhydramnios, Thickened s... ORPHA:436252
Hennekam Syndrome
Recurrent respiratory infections, Sparse axillary hair, Lymphedema, Pericardial effusion, Splenom... ORPHA:2136
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Pruritus, Cholelithiasis OMIM:177000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Mildly elevated creatine kinase, Follicular hyperkeratosis ORPHA:486815
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno... OMIM:608013
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... ORPHA:567983
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblastic leukemia, O... OMIM:223370
Dengue Fever
Hepatomegaly, Skin rash, Pruritus, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... ORPHA:64745
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Facial edema, Periorbital edema, Ret... ORPHA:449432
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis, Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... OMIM:604536
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a... ORPHA:96123
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,... ORPHA:293173
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Fine hair, Hypohidrosis, Hyperk... ORPHA:1806
Gand Syndrome
Sparse hair OMIM:615074
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... OMIM:250250
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Idiopathic Localized Lipodystrophy
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Morphea ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Absent eyebrow, Absent nipple, Sparse eyelashes, Sparse scalp hair, Recurrent respira... OMIM:614941
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb... ORPHA:171
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Hyperkeratotic papule, Acne ... ORPHA:79145
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia ORPHA:329971
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hyperkeratosis, Toenail... ORPHA:79452
Incontinentia Pigmenti
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Eosinophilia, Keratiti... ORPHA:464
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Lymphadenopath... ORPHA:139402
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Lymphatic Filariasis
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Opp... ORPHA:2035
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, ... OMIM:612843
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism ORPHA:3019
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... ORPHA:575
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Pustule, Recurrent tonsillitis, Hyperkalemia, Atopic dermatitis, Deh... ORPHA:171876
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema ORPHA:79242
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Menkes Disease
Brittle hair, Alopecia, Decreased circulating ceruloplasmin concentration, Sparse hair OMIM:309400
Familial Benign Copper Deficiency
Anemia, Early balding, Decreased circulating copper concentration, Acne ORPHA:1551
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal... OMIM:137940
Myeloma, Multiple
Paraproteinemia OMIM:254500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Decreased circulating IgA level ORPHA:457485
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Propionic Acidemia
Hepatomegaly, Pancytopenia, Eczema, Thrombocytopenia, Hyperammonemia, Dehydration, Hyperglycinemi... OMIM:606054
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Hypohidrosis ORPHA:461
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infe... ORPHA:79396
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... OMIM:610984
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... ORPHA:2269
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Dehydration, Leukopenia, Hypoalbumin... ORPHA:99826
Lelis Syndrome
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Hypohidrosis, Palmoplantar hyperkerat... ORPHA:140936
Caffey Disease
Increased circulating antibody level ORPHA:1310
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Thin skin, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios ORPHA:261304
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... OMIM:617718
Tempi Syndrome
Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Ascites, Po... ORPHA:284227
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis ORPHA:181
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... OMIM:616295
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... OMIM:557000
Donohue Syndrome
Cholestasis, Recurrent infections, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperk... ORPHA:3253
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... ORPHA:100026
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hyperkeratosis, Lymphedema ORPHA:79279
Cutis Laxa, Autosomal Recessive, Type Iiia
Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Thin skin, Sparse hair, ... OMIM:219150
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema OMIM:615907
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Imbalanced h... ORPHA:330015
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reac... ORPHA:79099
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Conjunctivitis, Neutropenia, Tige... ORPHA:33364
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Naxos Disease
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Cardiomegaly, Diffuse palmopl... OMIM:601214
Rift Valley Fever
Skin rash, Thrombocytopenia, Jaundice, Severe viral infection, Hepatitis, Uveitis, Macular edema,... ORPHA:319251
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich... OMIM:607602
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis, Abnormality of the nail ORPHA:254478
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Facial... ORPHA:319213
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Pallor, Hypotension ORPHA:134
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Acute pancreatitis, Pericarditis, Chilblain... OMIM:619487
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... ORPHA:137675
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Polyhydramnios, Concave nail, Abnormal hair morph... ORPHA:3071
Tay-Sachs Disease
Pallor OMIM:272800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconjunctivitis s... OMIM:234050
Say-Barber-Miller Syndrome
Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Tra... ORPHA:3132
Lassa Fever
Facial edema, Jaundice, Sepsis, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Hypoalbuminemia OMIM:614441
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile ... ORPHA:562639
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... ORPHA:1028
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... OMIM:253260
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Acanthosis nigricans... ORPHA:2457
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Polyhydramnios, Decreased proportion of CD8-positive T cells, Increase... ORPHA:508533
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Thrombocytopenia... ORPHA:297
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair OMIM:620075
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Acquired Purpura Fulminans
Thrombocytopenia, Skin rash, Sepsis, Elevated circulating C-reactive protein concentration ORPHA:49566
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Transient ischemic attack, Cholangitis, Supraventricular arrhythmi... ORPHA:3260
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Recurrent infect... OMIM:617827
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arthritis, ... ORPHA:29207
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Sialidosis Type 1
Hyperkeratosis, Splenomegaly ORPHA:812
Noonan Syndrome 14
Curly hair, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Webbed neck, S... OMIM:619745
Scleromyxedema
Elevated circulating creatine kinase concentration, Pruritus, Thickened skin, Paraproteinemia, Sc... ORPHA:167635
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Splenomegaly, Hyperhidrosis, Lymphadenopath... ORPHA:83317
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Lymphedema, Abnormal eyelash morphology, Low posterior hairline,... ORPHA:1340
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Severe B ly... ORPHA:83617
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Mycetoma
Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t... ORPHA:2583
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, ... OMIM:305100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail, Eczema OMIM:619721
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce... ORPHA:81
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:565612
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Eec Syndrome
Slow-growing hair, Keratitis, Sparse eyebrow, Xerostomia, Nail pits, Hypohidrosis, Fine hair, Hyp... ORPHA:1896
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Ichthyosis, Loose anagen hair, Hyperkerato... OMIM:607721
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... ORPHA:974
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyo... OMIM:606545
Ullrich Congenital Muscular Dystrophy 1
Recurrent lower respiratory tract infections, Mildly elevated creatine kinase, Follicular hyperke... OMIM:254090
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulating IgG leve... ORPHA:99827
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... ORPHA:90003
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphaden... OMIM:142680
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Trichorhinophalangeal Syndrome, Type I
Recurrent respiratory infections, Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leu... OMIM:190350
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, P... ORPHA:659
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly,... ORPHA:77261
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis ORPHA:36386
Agel Amyloidosis
Edema, Pruritus, Xerostomia, Keratoconjunctivitis sicca, Abnormal spleen morphology, Blepharochal... ORPHA:85448
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Decreased fumarate hydratase activity, Pallor OMIM:606812
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, A... OMIM:308205
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveiti... OMIM:612387
Childhood Absence Epilepsy
Pallor ORPHA:64280
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Sepsis, Hypohid... ORPHA:158668
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Th... ORPHA:217346
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abn... ORPHA:85443
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Perica... OMIM:181000
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis OMIM:615225
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytop... OMIM:277380
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Elevated circulating C... ORPHA:449563
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Macs Syndrome
Alopecia, Palpebral edema, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Ichthyo... OMIM:613075
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... ORPHA:99829
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Acanthosis nigricans, Sparse hair, Lymphopenia, Anemia OMIM:616541
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj... OMIM:106260
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Sparse hair OMIM:614105
Rothmund-Thomson Syndrome Type 1
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Facial edem... ORPHA:221008
Japanese Encephalitis
Hyponatremia, Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating an... ORPHA:79139
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Palpebral edema, Increased serum beta-hexosaminidase, Cardiomegaly, S... OMIM:252500
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Polyhydramnios, Synophrys, Decreased circulating antibody level, Decreased... OMIM:617062
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis ORPHA:163525
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu... ORPHA:568051
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline, Anemia OMIM:617883
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Reynolds Syndrome
Hepatomegaly, Skin rash, Pruritus, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, C... ORPHA:779
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Ichthyosis ORPHA:177
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:614457
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Recurrent upper respiratory tract infections ORPHA:284180
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Hypohidrosis ORPHA:884
Aredyld Syndrome
Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly ORPHA:1133
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:26793
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Reynolds Syndrome
Calcinosis, Hepatomegaly, Erythema nodosum, Splenomegaly, Pruritus, Jaundice, Biliary cirrhosis, ... OMIM:613471
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma OMIM:616029
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Rothmund-Thomson Syndrome Type 2
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Facial edem... ORPHA:221016
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctiviti... ORPHA:863
Centrifugal Lipodystrophy
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans OMIM:618527
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine con... ORPHA:79284
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma OMIM:609180
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Werner Syndrome
Sparse scalp hair, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis, White forelock... ORPHA:902
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... ORPHA:508542
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Polyhydramnios, Lymphedema, Splenomegaly... OMIM:613563
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hyperkeratosis... OMIM:308050
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... ORPHA:533
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Bone marr... OMIM:612199
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Uveitis, Hypohidrosis, Hy... ORPHA:548
Zinc Deficiency, Transient Neonatal
Alopecia, Decreased serum zinc, Eczema OMIM:608118
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Cranioectodermal Dysplasia 2
Hepatomegaly, Sparse eyelashes, Cholangitis, Polyhydramnios, Sparse eyebrow, Splenomegaly, Recurr... OMIM:613610
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair ORPHA:2316
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Decreased circulating antibody level, ... ORPHA:175
Joubert Syndrome 37
Sparse hair, Hepatomegaly OMIM:619185
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... ORPHA:90291
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation OMIM:614171
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy ORPHA:2483
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Bethlem Myopathy
Hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:610
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyper... OMIM:610644
Noonan Syndrome 2
Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline... OMIM:605275
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypop... OMIM:614091
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... OMIM:617321
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Acanthosis nigricans OMIM:268020
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Premature Aging Syndrome, Penttinen Type
Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Thin skin, Sp... OMIM:601812
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Polyhydramnios, Synophrys, Hirsutism, Recurrent infe... OMIM:615485
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia, Skin rash, Hyperammonemia OMIM:253270
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Bone marrow hypocellularity, Alopecia, Nail dystrophy OMIM:616353
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:129900
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Thin nail, Eczema, Neutropenia, Sparse hair OMIM:617799
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Monosomy 18Q
Low anterior hairline, Decreased circulating IgA level ORPHA:1600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Hypohidrosis, Fine hair, Sparse hair, Oligohy... OMIM:613451
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair, Abnormal circulating apolipoprotein concentration ORPHA:357074
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Hypocalcemia,... OMIM:619991
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair OMIM:224900
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Recurrent respiratory infections, Eczema, Low anteri... OMIM:601358
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Webbed neck, Left vent... OMIM:616564
Prolactinoma
Pallor, Hypotension ORPHA:2965
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera... OMIM:615726
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Hyperlipidemia, Brittle hair OMIM:608612
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Sparse eyebrow, Recurrent infections, Nail dysplasia, Sparse hair OMIM:613026
Kawasaki Disease
Pericarditis, Abnormality of nail color, Skin rash, Edema, Myocarditis, Recurrent pharyngitis, Ce... ORPHA:2331
Fabry Disease
Lymphedema, Hyperlipidemia, Hypohidrosis, Arthritis, Hyperkeratosis, Left ventricular hypertrophy... ORPHA:324
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... ORPHA:93672
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Conjunctivi... OMIM:103285
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair ORPHA:560
Kindler Epidermolysis Bullosa
Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Coliti... ORPHA:2908
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Recurrent bronchitis OMIM:612567
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent viral infections, Hyperammonemia, Recurrent candida infections, Co... ORPHA:79241
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Scarf Syndrome
Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair ORPHA:3134
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... ORPHA:294023
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... OMIM:268130
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Bruising susceptibility ORPHA:667
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Nephri... ORPHA:73263
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory infect... ORPHA:900
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Recurrent pneumonia OMIM:616449
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypertriglyceridemia, Hypercalcemia, Decreased circulating IgA l... ORPHA:369837
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Abnormal intra... ORPHA:363618
Leprechaunism
Hepatomegaly, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hyperkeratosis, Hypokalemia... ORPHA:508
Scalp-Ear-Nipple Syndrome
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Hypohid... OMIM:181270
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Down Syndrome
Sparse hair, Abnormality of the lymphatic system, Acute megakaryocytic leukemia ORPHA:870
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Thickened skin, Hyperkeratosis, Long eyelashes, Neutropenia ORPHA:79430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Polyhydramnios, Low posterior hairline, Coa... OMIM:617506
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Eczema, Synophrys, Sparse hair, Chronic otitis media, Toenail dysplasia, Hirsutism OMIM:300966
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... ORPHA:653
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Hypohidrosis, Hyperkeratosis, Nail dysplasia, Trichodysplasia OMIM:601701
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Generalized hyperkerat... ORPHA:349
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Hamamy Syndrome
Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Low posterior hairline, Hypochromic anemia, ... OMIM:611174
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Meningitis, Osteoarthritis, Peritonitis, Splenomegaly, Pedal e... ORPHA:342
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Recurrent infections, Thin skin, Hypocholesterolemia, Sparse hair OMIM:244450
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Thi... OMIM:150400
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... OMIM:604292
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis ORPHA:28378
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Malform... OMIM:218330
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Hyperuricemia, Gout, Recurrent infections OMIM:300661
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... ORPHA:2710
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Xeroderma Pigmentosum
Alopecia, Keratitis, Thickened skin, Hyperkeratosis, Thin skin, Blepharitis ORPHA:910
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem... ORPHA:793
Hallermann-Streiff Syndrome
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Sparse eyebrow, Recurrent ... OMIM:234100
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Abnormal hair morphology, Abnormal hair w... ORPHA:79474
Chime Syndrome
Acute leukemia, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair ORPHA:3474
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... ORPHA:1071
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Abdominal situs... ORPHA:2108
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Acute lymphoblastic ... OMIM:280000
White-Sutton Syndrome
Sparse hair, Recurrent infections OMIM:616364
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor OMIM:600901
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Alopecia, Eczema, Hyperkera... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Alopecia, Eczema, Hyperkera... ORPHA:363958
Glass Syndrome
Sparse hair, Long eyelashes, Thin skin, Nail dysplasia OMIM:612313
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl... ORPHA:64744
Degcags Syndrome
Hepatomegaly, Tachycardia, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Pallor, P... OMIM:619488
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Thin skin, Fine hair OMIM:614438
Menkes Disease
Hypopigmentation of hair, Osteomyelitis, Thickened skin, Sepsis, Prolonged neonatal jaundice, Spa... ORPHA:565
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor OMIM:227650
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Edema, Parony... ORPHA:79404
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Polyhydramnios, Sparse ey... OMIM:620186
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair, Hepatocellular carcinoma OMIM:616200
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Palmoplantar hyperke... OMIM:619127
Scarf Syndrome
Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair OMIM:312830
Stuve-Wiedemann Syndrome 1
Recurrent infections, Hyperhidrosis, Thin skin, Sparse hair, Oligohydramnios OMIM:601559
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism OMIM:212066
Aapoaiv Amyloidosis
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration ORPHA:439232
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Cervical lymphadenopathy, Crustin... ORPHA:324625
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Sarcoidosis
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Alop... ORPHA:797
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Polyhydramnios, Splenomegaly, Increased circu... ORPHA:373
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Recurrent upper respiratory tract infections, Asp... OMIM:602535
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... ORPHA:79501
Viss Syndrome
Chronic gastritis, Sparse scalp hair, Alopecia, Eczema, Polyhydramnios, Increased circulating IgE... OMIM:619472
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormal fingernail morphology, Palpebral edema, Pyelonephrit... ORPHA:2036
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Anemic pallor OMIM:227645
Fanconi Anemia, Complementation Group D2
Annular pancreas, Bruising susceptibility, Anemic pallor OMIM:227646
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Acanthosis nigricans, Recurrent pancreatitis, Thin skin,... OMIM:606721
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Hyperprotei... ORPHA:509
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails OMIM:164200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Stillbirth, Hyper... OMIM:210710
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Hypohidrosis OMIM:615510
De Barsy Syndrome
Sparse hair, Recurrent sinopulmonary infections, Thin skin ORPHA:2962
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Esophageal Atresia
Pallor ORPHA:1199
Plague
Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Meningitis, Splenom... ORPHA:707
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Hawkinsinuria
Hypertyrosinemia, Sparse hair OMIM:140350
Diamond-Blackfan Anemia 1
Congestive heart failure, Pallor, Tricuspid stenosis OMIM:105650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... ORPHA:95455
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Pancreatic cysts, Abnormality of the pancreas, Coarse hair, Sparse hair, ... ORPHA:2750
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Cockayne Syndrome B
Anhidrosis, Dry hair, Hepatomegaly, Abnormal hair morphology, Splenomegaly, Sparse hair OMIM:133540
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Highly arched eyebrow, Polyhydramnios, Spa... OMIM:619841
Cockayne Syndrome A
Anhidrosis, Dry hair, Hepatomegaly, Splenomegaly, Thymic hormone decreased, Sparse hair OMIM:216400
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Diamond-Blackfan Anemia
Pallor, Elevated red cell adenosine deaminase activity ORPHA:124
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin... ORPHA:556
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Hypertriglyceridemia, Recurrent skin infec... ORPHA:3455
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Polyhydramnios, Concave nail, Acanthosis nigricans, Webbed... OMIM:218040
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Eczema, Polyhydramnios, Sparse hair, Frontal hirsutism OMIM:617157
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair OMIM:614114
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Thin skin, Sparse hair, Breas... ORPHA:920
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Sparse scalp hair, Recurrent respiratory infections, Recurrent pneumonia, Recu... OMIM:150230
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis OMIM:266270
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Hepatic fibrosis, Sparse hair, Hepatic cysts OMIM:311200
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... OMIM:275210
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Proteus Syndrome
Thymus hyperplasia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Thickened skin, Enlarged po... ORPHA:744
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Thin skin, Follicular hyperkeratosis OMIM:225400
Restrictive Dermopathy
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... ORPHA:1662
De Sanctis-Cacchione Syndrome
Keratitis, Parakeratosis, Conjunctivitis OMIM:278800
Myhre Syndrome
Pericardial effusion, Thickened skin, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Recurrent infections OMIM:619934
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Roberts Syndrome
Sparse hair, Polyhydramnios, Thrombocytopenia ORPHA:3103
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congest... ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Cardiomegaly, Lymphedema ORPHA:79280
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hyperparakeratosis, Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Thin skin OMIM:151050
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Hyperlipidemia, Fine hair OMIM:241080
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma OMIM:620189
Kyphoscoliotic Ehlers-Danlos Syndrome
Synophrys, Thin skin, Follicular hyperkeratosis ORPHA:536545
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Breast hypoplasia ORPHA:432
6Q Terminal Deletion Syndrome
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow ORPHA:75857
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... ORPHA:73223
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis, Polyhydramnios OMIM:614557
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... OMIM:305600
Warburg-Cinotti Syndrome
Joint swelling, Thin skin, Follicular hyperkeratosis, Sterile abscess OMIM:618175
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Hypoplastic finger... OMIM:200110
Kanzaki Disease
Hyperkeratosis, Lymphedema OMIM:609242
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Wrinkly Skin Syndrome
Sparse hair, Recurrent sinopulmonary infections, High nonceruloplasmin-bound serum copper ORPHA:2834
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Cowden Syndrome
Enlarged polycystic ovaries, Palmoplantar keratoderma, Generalized hyperkeratosis ORPHA:201
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Enlarged polycystic ovaries, Sparse body hair, Sparse axillary hair ORPHA:90796
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Polyhydramnios, Biliary tract abnormality, Stillbirth, Sparse hair OMIM:268300
Menke-Hennekam Syndrome 1
Sparse hair, Recurrent upper respiratory tract infections, Long eyelashes, Thick eyebrow OMIM:618332
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Elevated circulating alpha-fetoprotein concentration, Syno... OMIM:259050
Branchiooculofacial Syndrome
Supernumerary nipple, Duplication of internal organs, Low posterior hairline, Premature graying o... OMIM:113620
Pallister-Killian Syndrome
Anhidrosis, Sparse scalp hair, Alopecia, Sparse eyelashes, Edema of the dorsum of feet, Supernume... OMIM:601803
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Nail dysplasia OMIM:616682
Neurocardiofaciodigital Syndrome
Sparse hair, Sparse eyebrow OMIM:619869
Wrinkly Skin Syndrome
Sparse hair, Short nail, Fragile nails OMIM:278250
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis OMIM:617900
Amyotrophic Lateral Sclerosis
Xerostomia ORPHA:803
Frontotemporal Dementia With Motor Neuron Disease
ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
OMIM:616439

Histopathology

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

There is no histopathology data for Tbk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tbk1.

No publications found that use IMPC mice or data for Tbk1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tbk1em1(IMPC)Ccpcz Exon Deletion Mice
Tbk1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tbk1tm213168(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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