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Gene: Dusp1 MGI:105120

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Dusp1tm1(KOMP)Wtsi HOM   Early adult 2.90×10-05
decreased body weight Dusp1tm1(KOMP)Wtsi HOM   Early adult 1.34×10-05
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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Viewing: all phenotypes

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 0.58% (3 of 515)
aorta 0.19% (1 of 518)
blood vessel 0.0%
bone 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 499)
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.39% (2 of 519)
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 521)
peyer's patch 0.66% (1 of 151)
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
striatum 0.58% (3 of 521)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
trachea 0.58% (3 of 520)
uterus 0.38% (2 of 528)
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
Dusp1tm1(KOMP)Wtsi
forearm, WT, Male, WTSI
Dusp1tm1(KOMP)Wtsi
body, WT, Male, WTSI
Dusp1tm1(KOMP)Wtsi
head, WT, Female, WTSI
Dusp1tm1(KOMP)Wtsi
forearm, WT, Female, WTSI
Dusp1tm1(KOMP)Wtsi
body, WT, Male, WTSI

View all 128 images

Dusp1tm1(KOMP)Wtsi
back skin, WT, Female, WTSI
Dusp1tm1(KOMP)Wtsi
back skin, HOM, Female, WTSI
Dusp1tm1(KOMP)Wtsi
back skin, WT, Female, WTSI
Dusp1tm1(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI

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
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... OMIM:616022
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal blood gas level, Increased circulating i... ORPHA:70578
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, R... ORPHA:70587
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections, Fever ORPHA:183713
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... OMIM:269840
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Thrombocythemia 2
Thrombocytosis OMIM:601977
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... OMIM:601457
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Thrombocythemia 3
Thrombocytosis OMIM:614521
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... OMIM:202700
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Cirrhotic Cardiomyopathy
Pulmonary edema, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Increased c... ORPHA:57777
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Decreased circul... OMIM:243700
Cyclic Neutropenia
Cyclic neutropenia, Fever, Neutropenia OMIM:162800
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:145981
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... OMIM:300400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosplenomegaly, Thrombocyt... OMIM:604416
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Chronic oral candidiasis, Dec... ORPHA:169160
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Hypotension, Cough, Pedal edema, Pleural ... ORPHA:188
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... ORPHA:98848
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Primary Erythromelalgia
Hypothermia, Leukemia ORPHA:90026
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Asthma, Atopic ... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Pneumoni... ORPHA:276
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Right ventricular failure,... ORPHA:199241
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... OMIM:601495
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Colitis, Viral he... OMIM:209920
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestiv... OMIM:261740
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Neutropenia, Recurrent bacterial infections, Monocytosi... ORPHA:2688
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Reticular Dysgenesis
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... ORPHA:33355
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Elevated ci... OMIM:601954
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Sple... OMIM:607271
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B ce... OMIM:619693
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... ORPHA:266
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Elevated circulat... OMIM:618655
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:606843
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Lymphatic Malformation 7
Respiratory distress, Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... OMIM:209950
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:600740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia OMIM:614069
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Pulmonary edema, Congestive heart failure, Sudden... OMIM:115197
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestin... OMIM:618108
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... ORPHA:331206
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Splenomegaly, Recurrent bacterial infections, Hyp... OMIM:603554
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Ar... ORPHA:229717
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... OMIM:616576
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Adult-Onset Nemaline Myopathy
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... ORPHA:171442
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Malar rash,... ORPHA:231111
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachycardia, Crackles, Elevated carcinoembryonic anti... ORPHA:264675
Ethylene Glycol Poisoning
Hypocalcemia, Pulmonary edema, Gastritis, Episodic respiratory distress, Cyanosis, Tachycardia, A... ORPHA:31826
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Increased variability in muscle fiber diameter, Increased connective ti... ORPHA:238329
Familial Hypocalciuric Hypercalcemia
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Infantile hype... ORPHA:405
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Airway obstruction, Reduced FEV1/... ORPHA:1303
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... OMIM:618986
Nipah Virus Disease
Respiratory distress, Hypotension, Cough, Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Neuromuscular dysphagia, Flexion contracture, EM... ORPHA:171439
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chronic sinus... OMIM:612444
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Rhinitis, Lymphopenia, Recurren... ORPHA:486
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Elevated circulating creatinine concentration, Pneumonia, Respirato... ORPHA:340
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Skeletal muscle hypertrophy, Splenomegaly, Cirrhosis, Ma... ORPHA:79083
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Hemophagocytic Lymphohistiocytosis, Familial, 3
Fever, Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608898
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:612937
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hypotension, Hyponatremia, Hyperkalemia, Recurrent respiratory infections OMIM:264350
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Skeletal muscle hypertrophy, Splenomegaly, Lipoatrophy, A... ORPHA:2348
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia OMIM:203400
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Absence Of The Pulmonary Artery
Pulmonary edema, Systolic heart murmur, Nonproductive cough, Cyanosis, Tachycardia, Orthopnea, Re... ORPHA:980
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... OMIM:614399
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Sept... ORPHA:36234
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:300717
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Elevated circulating... ORPHA:85435
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hyperammonemia, Hydrops fetalis, Myocarditis, Hypotension, Polyh... ORPHA:292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... OMIM:619566
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Recurrent oral h... OMIM:619652
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Elevated circulating creatine kinase concentrati... OMIM:600969
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Eczema, Chronic sinusitis, Recurrent viral i... ORPHA:443811
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Eosinophilia, C... OMIM:147060
Snakebite Envenomation
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Felty Syndrome
Sepsis, Weight loss, Pericarditis, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Ar... ORPHA:47612
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Depression, Increased var... OMIM:613954
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Sev... ORPHA:544482
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration, Hypotension, Increased circulating renin level, Hyponatremi... ORPHA:556030
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Mercury Poisoning
Respiratory distress, Hypokalemia, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, H... ORPHA:330021
Spontaneous Periodic Hypothermia
Hypothermia, Skin rash ORPHA:29822
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Cholesterol Pneumonia
Cyanosis, Cough, Pneumonia, Tachypnea OMIM:215030
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Re... OMIM:618048
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Riboflavin Deficiency
Hypothermia OMIM:615026
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... ORPHA:206549
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Anemia, Sepsis, Chronic otitis media, Art... ORPHA:47
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... ORPHA:133
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypomagnesemia, Hypokalemia OMIM:154020
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgA level, Splenomegaly, Sclerosing chol... OMIM:308230
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... ORPHA:464370
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reactive prote... ORPHA:79099
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Reticulonodular pattern on pulmonary HRCT,... ORPHA:79126
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... OMIM:618282
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Skin rash, Hypotension, Cardiorespiratory arrest, Gastroint... ORPHA:99828
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Bronchial Neuroendocrine Tumor
Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Ca... ORPHA:97287
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia OMIM:177735
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Inclusion Body Myositis
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... ORPHA:611
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... ORPHA:1878
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurre... OMIM:617475
Legionnaires Disease
Pancreatitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Abnormal pleura m... ORPHA:549
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contr... OMIM:613327
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated ci... OMIM:300718
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... ORPHA:33110
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyo... OMIM:242700
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233710
Immunodeficiency 75
Hepatosplenomegaly, Persistent EBV viremia, Decreased proportion of class-switched memory B cells... OMIM:619126
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infections, Panhypogammaglobuli... OMIM:600802
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Scorpion Envenomation
Bundle branch block, Hypokalemia, Pulmonary edema, Premature ventricular contraction, ST segment ... ORPHA:466677
Immunodeficiency 64
Failure to thrive, Increased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:618534
Renal Tubular Dysgenesis
Respiratory insufficiency, Oligohydramnios, Pulmonary hypoplasia, Hypotension OMIM:267430
Cutaneous Mastocytoma
Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculopapular exanthema, ... ORPHA:79455
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Recurrent infections due to aspiration, Orthostatic hypotension, T... OMIM:223900
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... ORPHA:353
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556037
Immunodeficiency 23
Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection, Increased ci... OMIM:615816
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... ORPHA:97244
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Neonatal respira... OMIM:608644
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... ORPHA:411703
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Weight loss, Hy... ORPHA:2902
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Sepsis, Recurr... OMIM:602450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... OMIM:253700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233690
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Anemia OMIM:175500
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... ORPHA:90117
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope... ORPHA:230
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Abnormal circulating interleukin... ORPHA:85410
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Failure to thrive, Joint contracture of the hand, Tip-toe gait, Flex... ORPHA:536516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... ORPHA:79124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thr... OMIM:150550
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... OMIM:618484
Infant Botulism
Xerostomia, Chronic otitis media, Hypotension, Hyponatremia, Dyspnea, Hypertension, Keratoconjunc... ORPHA:178478
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fever, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferativ... ORPHA:98849
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Whim Syndrome
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Sepsis, Recurrent bacterial infections, Recurr... ORPHA:51636
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... ORPHA:2442
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymp... OMIM:619752
Colchicine Poisoning
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, D... ORPHA:31824
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia ORPHA:100024
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Breathing dysregulation,... ORPHA:79155
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic f... OMIM:607765
Whipple Disease
Respiratory insufficiency, Myositis, Myocarditis, Hypotension, Arthritis, Pleuritis, Myocardial i... ORPHA:3452
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent upper respiratory tract infections, Hypotension, Recurrent sinu... ORPHA:293978
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Decreased circulating IgA level, Decreased circulating IgG level, Hepa... OMIM:212065
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Mogs-Cdg
Respiratory distress, Apnea, Decreased circulating IgA level, Pulmonary edema, Decreased circulat... ORPHA:79330
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Cyanosis, Tachycar... ORPHA:137675
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... OMIM:500009
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... ORPHA:71
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Aspiration pneumonia, Dehydration, Tachycardia, Hyp... ORPHA:173
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, S... OMIM:616100
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea... OMIM:614817
Perry Syndrome
Central hypoventilation, Hypotension ORPHA:178509
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Cryptogenic Organizing Pneumonia
Respiratory distress, Neutrophilia, Hypoxemia, Leukocytosis, Nonproductive cough, Crackles, Wheez... ORPHA:1302
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Limb ataxia, Emotional lability, Weakness of facial ... OMIM:258450
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Anemia, Reduced proportion of CD4+ ef... ORPHA:90362
Relapsing Fever
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Cough, Increased... ORPHA:91547
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase co... OMIM:603511
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Chondrocalcinosis, Iron deficiency ... ORPHA:358
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Decreased body weight, Dysmetria, Depression, Abetalipoproteinemia, Elevated circulating ... ORPHA:96180
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Conjunctivitis, Nonp... ORPHA:454836
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Pulmonary edema, Sudden cardiac death, Hypocalcemic tetany, Dilated... ORPHA:73224
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Abnormal pulmonary interstitial morphology, Pneumothorax, Pulmonary arterial hype... OMIM:612387
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis, Recurrent ba... OMIM:612840
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... ORPHA:50251
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Necrotizing Enterocolitis
Apnea, Peritonitis, Hypotension, Shock, Hyponatremia, Edema, Ascites, Bradycardia ORPHA:391673
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Loss of ambulation, Increased endomysial connective tissue, Decreased body wei... OMIM:602771
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension... ORPHA:100050
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabili... ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fiber diameter... OMIM:619065
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:90051
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... OMIM:619790
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Scrub Typhus
Skin rash, Hypotension, Cough, Myocarditis, Anterior uveitis, Infectious encephalitis, Restrictiv... ORPHA:83317
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, Interstitial pneumoni... ORPHA:231154
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Skin rash, Hypotension, Shock, Infectious ... ORPHA:33475
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia... OMIM:615934
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Ne... OMIM:612649
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Beta-Ketothiolase Deficiency
Hyperammonemia, Dehydration, Hypotension, Tachypnea, Cough, Hyperuricemia, Edema, Hypertension ORPHA:134
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Hyponatremia ORPHA:199296
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Flexion contracture, Increa... OMIM:254090
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Rheumatoid Arthritis
Joint stiffness, Joint swelling, Elevated circulating C-reactive protein concentration, Rheumatoi... OMIM:180300
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Aspiration pneumonia, Dehydration, Elevated circulating creatine ki... ORPHA:94093
Slc35A1-Cdg
Respiratory distress, Neutropenia, Pulmonary hemorrhage, Giant platelets, Pneumonia, Hypoxemia, T... ORPHA:238459
Kenny-Caffey Syndrome, Type 1
Anemia, Hypomagnesemia, Hypocalcemia OMIM:244460
Common Variable Immunodeficiency
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Failu... ORPHA:1572
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... OMIM:618131
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Broad-based gait, Abnormal circulating apolipoprotein concentr... ORPHA:14
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Elevated circu... OMIM:617675
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Anemia, Leukopenia, Abnormal macrophage morph... ORPHA:507
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Oligohydramnios, Hypotension OMIM:618480
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococ... OMIM:116920
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope... OMIM:242860
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Skin rash, Juvenile rheuma... ORPHA:85414
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
Mastocytosis