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Gene: Plau MGI:97611

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Gene Summary

Name:
plasminogen activator, urokinase
Synonyms:
uPA,  u-PA,  urokinase-type plasminogen activator

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
increased monocyte cell number Plautm1b(EUCOMM)Wtsi HOM Early adult 9.58×10-05
increased neutrophil cell number Plautm1b(EUCOMM)Wtsi HOM Early adult 9.65×10-05
decreased grip strength Plautm1b(EUCOMM)Wtsi HOM Early adult 2.01×10-05
decreased exploration in new environment Plautm1b(EUCOMM)Wtsi HOM Early adult 3.85×10-05

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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
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 N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 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)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Not available
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Not available
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Not available
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Not available
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Not available
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Not available
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote Ambiguous

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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Phenotype associated images not available

Human diseases caused by Plau mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Alzheimer Disease, Familial, 1
Dementia OMIM:104300

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the nose, Pan... ORPHA:2869
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the lung, Neoplasm o... ORPHA:424019
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Visceral Myopathy 2
Necrotizing enterocolitis, Barrett esophagus, Intestinal obstruction, Intestinal malrotation, Int... OMIM:619350
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Autoimmunity, Abnorm... ORPHA:611
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Hep... OMIM:619858
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... ORPHA:251992
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Eosinophilia, Pneumonia, Thrombocyt... OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Elevated circulating creat... OMIM:158810
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased ... OMIM:618986
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Adult-Onset Nemaline Myopathy
Paraproteinemia, Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Up... ORPHA:171442
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Pulmonary Blastoma
Cough, Dyspnea, Recurrent pneumonia, Weight loss ORPHA:64741
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Splenoportal Vascular Anomalies
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... ORPHA:171445
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Thick eyebrow, Posteriorly rotated ears, Elevated circulating creatine k... OMIM:300280
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Idiopathic Bronchiectasis
Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys... ORPHA:60033
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Ab... ORPHA:399081
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Nemaline Myopathy 6
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl... OMIM:609273
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... OMIM:609200
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Lymphocy... OMIM:308240
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He... ORPHA:369
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Hermansky-Pudlak Syndrome 2
Gastroesophageal reflux, Recurrent abscess formation, Neutropenia, Prolonged bleeding time, Hepat... OMIM:608233
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Anal fissure, Perianal abscess, Splenomegaly, Recurrent pneumonia, Rec... OMIM:618935
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... ORPHA:93941
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Flexio... OMIM:616471
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Ap... OMIM:619111
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Villous atrophy, Persistent EBV viremia, T lymphoc... OMIM:619510
Blue Rubber Bleb Nevus
Rectal prolapse, Volvulus, Intestinal bleeding, Pathologic fracture, Hemangioma, Intussusception,... OMIM:112200
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... ORPHA:254361
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra... ORPHA:206599
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... ORPHA:206546
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cough, Bronchiectasis, Hepatitis,... ORPHA:33110
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Mitochondrial Myopathy With Diabetes
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... OMIM:500002
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice ORPHA:446
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin... ORPHA:206569
Vici Syndrome
Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym... OMIM:242840
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy, Elevated circulating creatine kinase concentration ORPHA:88635
Idiopathic Achalasia
Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splen... ORPHA:77297
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc... OMIM:178500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Anti-acetylcholine receptor antibody positivity, Flexion c... OMIM:616313
Isolated Glycerol Kinase Deficiency
Myopathy, Osteoporosis, Elevated circulating creatine kinase concentration, Cryptorchidism ORPHA:408
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypoalbuminemia,... OMIM:174900
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Merrf
Multiple lipomas, Ragged-red muscle fibers, Myopathy ORPHA:551
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:255100
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Hypospadias, Facial palsy, Elevated circulating creatine kinase conc... OMIM:301830
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration OMIM:607091
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob... OMIM:300310
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Pyloric stenosis, Ragged-red muscle fibers, L... OMIM:616924
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... OMIM:620386
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... OMIM:175200
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Right atrial enlargement, Global sys... ORPHA:57777
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Epicanthus, Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Pachyg... OMIM:235510
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy OMIM:160570
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased circulatin... OMIM:611926
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy, Dysphagia, Joint hypermobility OMIM:618323
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Cough, Dys... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decr... ORPHA:169154
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... ORPHA:276435
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300695
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Aspergillosis
Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Dacryocystitis, Increased circulating IgE ... ORPHA:1163
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Joint stiffness, Proxi... ORPHA:598
Felty Syndrome
Recurrent respiratory infections, Pericarditis, Recurrent urinary tract infections, Hepatomegaly,... ORPHA:47612
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... ORPHA:86812
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... OMIM:619040
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233710
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High... OMIM:201550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... ORPHA:411593
Nemaline Myopathy 7
Genu recurvatum, Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle ... OMIM:610687
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... OMIM:167320
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Anti-acetylcholine receptor antibody positivity OMIM:616314
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Epistaxis, Impaired neutrophi... OMIM:260570
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, High palate, Dysphagia, EMG: ... OMIM:609284
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233690
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Vaginal fistula, Myopathy ORPHA:2597
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Decreased plasma free carnitine,... OMIM:619048
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Skeletal muscle atrophy, Myositis, Elevated circulating C-react... OMIM:615934
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormal pleura morphology, Increased circulating ferritin concentration, My... ORPHA:210136
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Ptosis, Anal stenosis, Epicanthus, Telecanthus, Abnormality of... ORPHA:235
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:1878
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... ORPHA:79319
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Abnormal lactate dehydrogena... ORPHA:42
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Antinuclear antibody positivity, Limb-girdle ... OMIM:608810
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, High palate, T... OMIM:605637
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Combined Oxidative Phosphorylation Deficiency 30
Sensorineural hearing impairment, Gastroesophageal reflux, Left ventricular hypertrophy, Hyperala... OMIM:616974
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Elbow flexion contracture, Hamstring contrac... ORPHA:97244
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Highly ... OMIM:618619
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... OMIM:620249
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Anti-acetylcholine receptor antibody positivity, Limb muscle weakness, Myo... OMIM:603034
Congenital Myasthenic Syndromes With Glycosylation Defect
Joint laxity, Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy,... ORPHA:353327
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Abnormal lymphocyte proliferation, Abnor... ORPHA:99867
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Central Core Disease
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat... ORPHA:597
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:618129
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:607616
Noonan Syndrome 8
Epicanthus, Ventricular septal defect, Pleural effusion, Mitral regurgitation, Pulmonic stenosis,... OMIM:615355
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Intestinal perforation, Leuk... ORPHA:90038
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Elevated creatine kinase after exercise, Multiple joint contractures... ORPHA:352470
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Facial palsy, Flexion contracture, Skeletal m... OMIM:613156
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Increase... ORPHA:397596
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:306400
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
X-Linked Immunoneurologic Disorder
Myopathy, Decreased circulating IgG2 level ORPHA:2571
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu... ORPHA:397744
Scedosporiosis
Unusual skin infection, Pericarditis, Pneumonia, Bronchitis, Invasive fungal infection, Fungal me... ORPHA:449280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... OMIM:612937
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Rec... OMIM:616433
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Pulmonary hypop... OMIM:616733
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchi... ORPHA:486815
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Respiratory insufficiency, Cachexia ORPHA:157973
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Idiopathic Pulmonary Fibrosis
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl... ORPHA:2032
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive OMIM:614602
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Elevated circulating creatine kinas... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Simplified gyral pattern, Lissencephaly, Musc... OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf... OMIM:611307
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosple... OMIM:606003
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El... OMIM:608840
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Gastritis, ... ORPHA:809
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Elevated circulating C-reactive protein concentratio... ORPHA:79126
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy... ORPHA:300179
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Pulmonary edema, Left ventricular hypertrophy,... ORPHA:79330
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis ORPHA:848
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:619566
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Congenital Myopathy 10A, Severe Variant
Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa... OMIM:614399
Mounier-Kühn Syndrome
Tracheal stenosis, Pneumonia ORPHA:3347
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w... ORPHA:254886
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele... ORPHA:81
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric ste... OMIM:613177
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, ... OMIM:240500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Pulmonary fibros... OMIM:619767
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Telecanthus, Ventricular septal defect, Elevated circulating creatine kinase concen... OMIM:301056
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Hepatomegaly, Sparse eyelashes, Elevated circulating creatine kinase con... OMIM:615704
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Prolonged prothrombin time, Left ventricular hypertrophy, Volvulus,... ORPHA:335
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Usual interstitial pneumonia, Gastroesophageal reflux, Bone marrow... OMIM:614742
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor... ORPHA:186
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, H... ORPHA:37042
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Prelingual sensorineural hearing impairment OMIM:618632
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... OMIM:608423
Cln3 Disease
Vacuolated lymphocytes, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertrophy ORPHA:228346
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300696
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Pneumonia, Leukocytosis, BCGosis, De... OMIM:619652
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Leukocyte Adhesion Deficiency
Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctivitis, Meningitis, Polycythemia, P... ORPHA:2968
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... ORPHA:2552
Moynahan Syndrome
Cachexia ORPHA:2574
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:310300
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu... ORPHA:98813
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failur... OMIM:602579
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Epicanthus, Upslanted palpebral fissure, Microtia, High palate, Joint con... OMIM:248910
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Desquamative interstiti... OMIM:615952
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration OMIM:610717
Tuberculosis
Cough, Weight loss ORPHA:3389
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Insulin resistance, Uv... ORPHA:3452
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin... ORPHA:399086
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal cortical gyration, Intestinal malrotation, Hiatus herni... ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Elevated circulating ... OMIM:606612
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Conductive hearing impairment, Giant platelets, Cleft palate, Recurrent... OMIM:611209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly OMIM:238970
Wolman Disease
Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia ORPHA:75233
Familial Isolated Dilated Cardiomyopathy
Myopathy, Elevated circulating creatine kinase concentration ORPHA:154
Legionnaires Disease
Pericarditis, Cough, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Respiratory in... ORPHA:549
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Dysphagia OMIM:605809
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosin... OMIM:308230
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph... ORPHA:98911
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... OMIM:614654
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Hep... OMIM:618278
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus, Failure... OMIM:304790
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux, Pulmonary fibrosis, ... ORPHA:220402
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... OMIM:619487
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... ORPHA:440713
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Inflammation of the large... ORPHA:26790
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers... OMIM:300219
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... ORPHA:79322