Gene Summary

Name:
dual specificity phosphatase 1
Synonyms:
3CH134,  erp,  mkp-1,  Ptpn16,  MKP1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Dusp1tm1(KOMP)Wtsi HOM   Early adult 1.34×10-05
decreased total body fat amount Dusp1tm1(KOMP)Wtsi HOM   Early adult 2.90×10-05
thrombocytosis Dusp1tm1(KOMP)Wtsi HOM   Early adult 8.50×10-05
increased circulating magnesium level Dusp1tm1(KOMP)Wtsi HOM Early adult 6.47×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 128 images

Human diseases caused by Dusp1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dusp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Failure to thrive, Recurrent respiratory infections, Recurrent bacterial ... OMIM:616022
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal blood ... ORPHA:70578
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Res... ORPHA:70587
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever, Recurrent bacterial skin infections ORPHA:183713
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Heart block, Increased circulating ... ORPHA:542323
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Obesity... OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... OMIM:613500
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Analbuminemia
Recurrent lower respiratory tract infections, Increased LDL cholesterol concentration, Elevated c... OMIM:616000
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Thrombocythemia 3
Thrombocytosis OMIM:614521
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr... OMIM:612692
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:605258
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Recurrent opportunis... OMIM:608971
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Pulmonary edema... ORPHA:57777
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectasis, Sinusitis,... OMIM:226990
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Hypercalcemia, Chondrocalcinosis OMIM:145981
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Increased circulating IgE level, Atopic dermatitis, ... OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Elbow flexion contracture, H... OMIM:604416
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Immunodeficiency 52
Abnormal natural killer cell count, Persistent CMV viremia, Recurrent infections, Persistent EBV ... OMIM:617514
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Recurrent lower respiratory tract infections, Cholangitis, Panhypogammaglobulinemia,... OMIM:209920
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent bacterial infections, Rectal abscess,... OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Primary Erythromelalgia
Hypothermia, Leukemia ORPHA:90026
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Preeclampsia
Pulmonary edema, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertensio... ORPHA:275555
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Reticular Dysgenesis
Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Failure to... ORPHA:33355
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Pericarditis, Arrhythm... ORPHA:188
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid re... ORPHA:75249
Gne Myopathy
Hip flexor weakness, Steppage gait, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed ... ORPHA:602
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Wild Type Attr Amyloidosis
Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Pedal edem... ORPHA:330001
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Recurrent lower re... OMIM:619220
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Steppage gait, Rimmed vacuoles, Scapular winging, EM... OMIM:617158
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent upper and lower respi... OMIM:608106
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ... ORPHA:217390
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur... OMIM:618806
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... ORPHA:199241
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Inability to walk, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abn... ORPHA:266
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,... ORPHA:178464
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Persistent CMV vir... OMIM:300853
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase... ORPHA:178320
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Failure ... ORPHA:911
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive, Thrombocytopenia, Agammaglobulin... OMIM:619693
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Decreased circulating IgG level, Increased circulating IgM level, Decr... OMIM:606843
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Acut... ORPHA:36238
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Diff... OMIM:601954
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
High Altitude Pulmonary Edema
Tachycardia, Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Thrombocyto... OMIM:209950
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Dysphagia, Muscle fiber splitting, Calf muscle pseudohypertrophy,... OMIM:256030
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Multiple lipomas, Chondrocalcinosis OMIM:600740
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Anasarca, Bradycardia, ST segment elevation, Cardiomyo... OMIM:261740
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c... OMIM:614892
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic m... ORPHA:98813
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent... OMIM:615468
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Pulmonary edema, Left bundle branch block, Reduced left ventricular eje... OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Falls, Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diam... OMIM:618848
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bacterial infections, Re... OMIM:613779
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Lymphopenia, Decreased circulating antib... ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Decreased circulating total... OMIM:615615
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Adult-Onset Nemaline Myopathy
Difficulty walking, Type 1 muscle fiber predominance, Upper limb muscle weakness, Neuromuscular d... ORPHA:171442
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive, Hyponatrem... OMIM:613845
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Severe X-Linked Mitochondrial Encephalomyopathy
Irritability, Increased serum pyruvate, Increased variability in muscle fiber diameter, Increased... ORPHA:238329
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia OMIM:620125
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Recurrent ... ORPHA:486
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Dehydration, Hypotension, Hyponatremia, Recurrent respiratory infections OMIM:264350
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E... OMIM:615214
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, Bronchiectasis, T lymphocytopenia, Recurr... OMIM:615518
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Pneumocystis jirovecii pneumonia, ... OMIM:615207
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Elevated circulating C-reactiv... ORPHA:85435
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Difficulty walking, Type 1 muscle fiber predominance, Facial dip... ORPHA:171439
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia OMIM:203400
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypercalcemia, Renal hypophosphatemia, Chondrocal... ORPHA:405
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Malar rash, Elevat... ORPHA:231111
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Difficulty walking, Muscle fiber inclusion bodies, Facial di... ORPHA:399058
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Elevated circulating creatine kinase concentration, L... OMIM:620386
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circulating creatine ... OMIM:614399
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Bethlem Myopathy 2
Atrophic scars, Scapular winging, Elevated circulating creatine kinase concentration, Increased v... OMIM:616471
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal... ORPHA:79083
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Nipah Virus Disease
Recurrent pharyngitis, Hypotension, Infectious encephalitis ORPHA:99825
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating hepatic transaminase concentration, Rimmed vacuoles, Waddling gait, Elevated... OMIM:612937
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leukocytosis, Poikilocytosis, Hepat... ORPHA:824
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... ORPHA:443811
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Pulmonary edema, Prolonged QT interval, Gastritis, Atrial... ORPHA:31826
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hypertension, Epistaxis, Elevated circulating creatinine concentration, Increased ci... ORPHA:340
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Increased circulatin... OMIM:618495
Immunodeficiency 92
Recurrent oral herpes, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis, Decrea... OMIM:619652
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, T lymphocytopenia, Psoriasiform dermatitis, Decreased CD4:CD8 ... OMIM:606367
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Edema, Elevated circulating creatinine concentration, Myocarditis, Hypocalc... ORPHA:36234
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Congenital Enterovirus Infection
Myocarditis, Hydrops fetalis, Polyhydramnios, Skin rash, Cardiomyopathy, Hypotension, Pleural eff... ORPHA:292
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Increased circulating interleukin 6 concentration, Pleuritis, Acute co... ORPHA:544482
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fib... ORPHA:2348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:253601
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper... OMIM:145600
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Dehydration, Hypotension, Increased circulating renin leve... ORPHA:556030
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Splenomegaly, Neutropenia, Abnormal lymphocyte mor... ORPHA:47612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Waddling gait, EMG: myopathic abnormalities, F... OMIM:254110
Spontaneous Periodic Hypothermia
Skin rash, Hypothermia ORPHA:29822
Tibial Muscular Dystrophy
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... ORPHA:609
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Delayed epiphyseal ossification, Limited knee extension, Elevated circul... OMIM:600969
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Difficulty walking, Depression, Elevated circulating cre... OMIM:613954
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Meningitis, Sinusitis, Abnormal lung ... ORPHA:47
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... ORPHA:64739
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Failure to thrive, Severe B ly... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Riboflavin Deficiency
Hypothermia OMIM:615026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Absence Of The Pulmonary Artery
Congestive heart failure, Pulmonary edema, Atrial flutter, Reduced left ventricular ejection frac... ORPHA:980
Cocaine Intoxication
Pneumothorax, Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmi... ORPHA:90068
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Skin rash, Increased circulating IgA level, D... OMIM:618048
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Chondrocalcinosis OMIM:154020
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Re... OMIM:612783
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Splenomegaly, Neutropeni... OMIM:308230
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Pyoderma, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent... OMIM:242700
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Severe infec... ORPHA:464370
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ele... OMIM:300696
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Inflammatory abnorma... ORPHA:79099
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent fever, Recurrent aphthous stomatitis, Hyposegmentation ... OMIM:260570
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hyponatremia OMIM:177735
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infections OMIM:607624
Snakebite Envenomation
Hypotension, Cerebral ischemia, Angioedema, Hyponatremia, Cardiogenic shock, Epistaxis, Intracran... ORPHA:449285
Specific Granule Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Failure to thrive, Recurrent pneumonia, Thrombocytopenia,... OMIM:617475
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Elevated circula... OMIM:619473
Immunodeficiency 75 With Lymphoproliferation
Persistent EBV viremia, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly... OMIM:619126
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio... OMIM:615424
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ragged-red muscle fibers, Scapular winging, Waddling gait, Muscle... OMIM:616228
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Elevated circulating ... OMIM:619733
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, T lymphocytopenia, Recurrent aspiration pn... ORPHA:79124
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Agammaglobulinemia, Men... ORPHA:33110
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... OMIM:618940
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:613327
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Acrocyanosis, Tachycardia, ... OMIM:223900
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness... OMIM:614321
Corticosteroid-Binding Globulin Deficiency
Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotension, Hypokalemia OMIM:611489
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Difficulty walking, Type... OMIM:620249
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Increased circulating ... OMIM:618534
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypotension, Tricuspid regurgitation, Elevated cir... OMIM:620300
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia ORPHA:556037
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Difficulty walking, Distal lower limb muscle weakness, L... OMIM:620402
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Mercury Poisoning
Hypokalemia, Hypertension, Hypotension, Tachycardia, Interstitial pneumonitis ORPHA:330021
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Elevated circulating creatine kinase concentration, Mu... OMIM:609200
Acute Interstitial Pneumonia
Peripheral edema, Elevated circulating creatinine concentration, Atelectasis, Elevated circulatin... ORPHA:79126
Bronchiolitis Obliterans
Pneumonia, Hypoxemia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans ORPHA:1303
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Hypoproteinemia, Hypotension, Ascites, Epistaxis, Cerebra... ORPHA:99828
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
C1Q Deficiency 2
Recurrent otitis media, Elevated circulating C-reactive protein concentration, Malar rash, Arthri... OMIM:620321
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Incre... OMIM:160565
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri... OMIM:615978
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Elevated circulating creatine kinase concentration, Gait disturbance, Increased va... ORPHA:1878
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Acute infectious pneumonia, Elevated circulating carc... ORPHA:264675
Congenital Myopathy 14
Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr... OMIM:618414
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:300718
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Legionnaires Disease
Myocarditis, Pancreatitis, Recurrent pharyngitis, Hypotension, Pericarditis, Abnormal lung morpho... ORPHA:549
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent infections, B lymphocytopenia,... OMIM:150550
Cutaneous Mastocytoma
Maculopapular exanthema, Peau d'orange, Hypotension, Angioedema, Telangiectasia of the skin, Tela... ORPHA:79455
Scedosporiosis
Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection... ORPHA:449280
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Elev... OMIM:212138
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Carnitine-Acylcarnitine Translocase Deficiency
Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension, Elevated circulating ... ORPHA:159
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss ORPHA:1164
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph... ORPHA:51636
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:620542
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Hellp Syndrome
Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, Generalized edema, Cerebral ... ORPHA:244242
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Waddling gait, Congenital contracture, Increased... OMIM:605637
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell receptor ... OMIM:602450
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Uveitis, Ab... ORPHA:85410
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Weakness of facial mu... OMIM:620265
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Renal Tubular Dysgenesis
Oligohydramnios, Pulmonary hypoplasia, Hypotension OMIM:267430
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Elevated circulating creatine kinase concentration, Gai... OMIM:618129
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Muscle fiber necrosis, Spinal muscular a... OMIM:271150
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Scorpion Envenomation
Myocarditis, Congestive heart failure, Pulmonary edema, Increased circulating NT-proBNP concentra... ORPHA:466677
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Decreased pro... OMIM:618394
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Minimal change glomerulonephritis, Myositis,... OMIM:620565
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Tip-toe gait, Broad-based gait, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Waddling ... ORPHA:353
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular patte... ORPHA:2032
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Hypotension, Stomatitis ORPHA:79155
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hypotension, Tricuspid regurgitation, Facial telangie... ORPHA:97287
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Difficulty walking, Calf muscle hypertrophy, Rimmed vacuoles, Scapular wi... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Squalene Synthase Deficiency
Irritability, Increased circulating farnesol concentration, Elbow flexion contracture, Elevated c... OMIM:618156
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurre... ORPHA:169090
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Failure to thrive, Motor stereotypy, Hypocholesterolemi... OMIM:610883
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Dehydration, Increased blood urea nitrogen, Rhiniti... ORPHA:230
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Wadd... OMIM:617760
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Waddling gait, Triceps weakness,... ORPHA:86812
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Ankle flexion contracture, Foot joint contracture, Weakness of facial musculature, ... ORPHA:536516
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Depression, Calf muscle pseudohypertrophy, Decreased body weight, Elevated circulat... ORPHA:96180
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Microlissencephaly
Pneumonia ORPHA:1083
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Failure to thrive, Hypomagnes... ORPHA:358
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Abnormal proportion of CD4-positive T cells, Weight loss, Pulmonary... ORPHA:133
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased bod... ORPHA:477814
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, A... OMIM:266510
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Increased circulating interleukin 6... ORPHA:158061
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Reduced circulating alpha-1-antitrypsin concentration, Chronic bronchitis, Panaci... OMIM:613490
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Waddlin... OMIM:616924
Myopathy, Myofibrillar, 7
Difficulty walking, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion... OMIM:617114
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Elevated circulating creati... ORPHA:75840
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Bronchiolitis obl... OMIM:300755
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Antinuclear antibody positivity, Elevated circulating C-reactive protein concentration... OMIM:616414
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulating antibo... ORPHA:293978
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ... ORPHA:1163
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Pedal edema, Pleuritis, Myositis, Arthritis, Hypotensio... ORPHA:3452
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Pericarditis, Anteri... ORPHA:85414
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Decreased liver function, Cholestatic liver disease,... ORPHA:540
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial... ORPHA:137675
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hy... ORPHA:73224
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Decreased circulating antibody level, Generalized edema, Decreas... ORPHA:79330
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Relapsing Fever
Elevated circulating C-reactive protein concentration, Hypotension, Increased total bilirubin, Ep... ORPHA:91547
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Hypotension ORPHA:199296
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Steppage gait, Ragged-red muscle fibers, Truncal ataxia, Depression, Emotional labil... OMIM:258450
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, B lymphocytopenia, Neutropenia in presence of anti-neutropil... ORPHA:231154
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie... ORPHA:71
Infant Botulism
Chronic otitis media, Xerostomia, Hypertension, Cardiac arrest, Hypotension, Hyponatremia, Kerato... ORPHA:178478
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Necrotizing Enterocolitis
Bradycardia, Hypotension, Ascites, Hyponatremia, Peritonitis, Edema, Cyanosis, Shock ORPHA:391673
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Dehydration, Hypotension, Hypov... ORPHA:31824
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Dehydration, Hypovolemic shock, Hypo... ORPHA:173
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Tubulointerstitial ... OMIM:614817
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Neuroleptic Malignant Syndrome
Hyperkalemia, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Dehydration, Hypotension, H... ORPHA:94093
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Atelectasis, Recurr... OMIM:306400
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Enamel hypoplasia, Failure to thrive, We... OMIM:212750
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body... OMIM:602771
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Elevated circulating C-reactive protein concentration, Bradycardia, Ski... ORPHA:319213
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Elevated circulating creatine kinase concentration, Increased va... OMIM:613204
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine... OMIM:619790
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Leukopenia, Lym... OMIM:615934
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentrat... OMIM:608807
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... OMIM:611705
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension OMIM:612926
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent skin infections, Extram... OMIM:612840
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension OMIM:612924
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Hypoxemia, Pneumonia, Recurrent respirator... OMIM:610910
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c... ORPHA:14
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Elevated circulating C-reactive protein concentra... OMIM:180300
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Rhini... ORPHA:507
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Pfapa Syndrome
Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis ORPHA:42642
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Decreased body weight, Facial palsy, Type 1 fibers relatively smaller ... OMIM:300580
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular fail... ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Failure to thrive,... OMIM:242860