Myopathy, and Bronchiectasis

Diseases related with Myopathy and Bronchiectasis

In the following list you will find some of the most common rare diseases related to Myopathy and Bronchiectasis that can help you solving undiagnosed cases.


Top matches:

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY


Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|matr3-related distal myopathy|distal myopathy with vocal cord weakness|vcpdm, formerly|vcpdm

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

Low match CILIARY DYSKINESIA, PRIMARY, 12; CILD12


CILIARY DYSKINESIA, PRIMARY, 12; CILD12 Is also known as ciliary dyskinesia, primary, 12, without situs inversus

Related symptoms:

  • Short stature
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 12; CILD12

Low match BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3


BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 Is also known as cystic fibrosis-like syndrome

Related symptoms:

  • Bronchiectasis
  • Chronic bronchitis


SOURCES: MESH OMIM MENDELIAN

More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION


Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.

SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION Is also known as familial cd8 deficiency

Related symptoms:

  • Recurrent respiratory infections
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent viral infections
  • Absence of CD8-positive T cells


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION

Top 5 symptoms//phenotypes associated to Myopathy and Bronchiectasis

Symptoms // Phenotype % cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Sinusitis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Pneumonia Anemia Respiratory tract infection Dysarthria Cafe-au-lait spot Lymphopenia Recurrent pneumonia Combined immunodeficiency Abnormality of chromosome stability Muscle weakness Abnormality of the hair Seizures Respiratory insufficiency Respiratory failure Depressed nasal bridge Global developmental delay Neoplasm Cognitive impairment Failure to thrive Micrognathia

Rare Symptoms - Less than 30% cases


Abnormality of the musculature Pancytopenia Macrocephaly Unsteady gait Hypospadias Neuroblastoma Epicanthus Hypertelorism Nystagmus Thrombocytopenia Low-set ears Carcinoma Abnormality of the nervous system Intellectual disability, moderate Ataxia Microcephaly Sepsis Leukemia Decrease in T cell count Cryptorchidism Cellular immunodeficiency Chronic bronchitis Macroglossia Neurodegeneration Delayed puberty Decreased antibody level in blood Abnormality of the testis Otitis media Recurrent bronchitis Pleural effusion Abnormal facial shape Strabismus Cough Recurrent infections Hepatomegaly Distal muscle weakness Hoarse voice Dysphagia Acute lymphoblastic leukemia Pneumothorax Spasticity B-cell lymphoma Anteverted nares Short neck Peripheral neuropathy Rhabdomyosarcoma Telangiectasia Edema Hyperpigmentation of the skin Short nose Growth delay Difficulty walking Hemolytic anemia Renal insufficiency Lymphoma Apraxia Decreased body weight Scoliosis Arrhythmia Diarrhea Hepatocellular carcinoma Spinocerebellar tract degeneration Chronic lymphatic leukemia Severe combined immunodeficiency Renal neoplasm Hypoplasia of the thymus Lymphoproliferative disorder Recurrent lower respiratory tract infections Chromosome breakage Hypopigmentation of hair Conjunctival telangiectasia Absent Achilles reflex Female hypogonadism Chronic myelogenous leukemia IgE deficiency Aspiration Split hand Sensory impairment Distal sensory impairment Limb muscle weakness EMG abnormality Respiratory insufficiency due to muscle weakness Myalgia Dementia Babinski sign Elevated serum creatine phosphokinase Hyperreflexia Defective B cell differentiation Interosseus muscle atrophy Neoplasm of the breast Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy IgA deficiency Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Fasciculations Chronic hepatitis Decreased nerve conduction velocity Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Hodgkin lymphoma Truncal ataxia Prematurely aged appearance Gait disturbance Abnormality of eye movement Neurological speech impairment Abnormality of the liver Anxiety Elevated hepatic transaminase Gait ataxia Diabetes mellitus Myoclonus Dystonia Cerebellar atrophy Tremor Distal amyotrophy Flexion contracture Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Abnormality of movement Polyneuropathy Myeloid leukemia Slurred speech Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Breast carcinoma Abnormal cerebellum morphology Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Abnormal vertebral morphology Limb ataxia Choreoathetosis Intention tremor Type II diabetes mellitus Hepatitis Chorea Progressive cerebellar ataxia Nasal speech Abnormality of musculature of pharynx Amyotrophic lateral sclerosis Optic neuropathy Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Joint swelling Uveitis Hemoptysis Vitreous hemorrhage Pulmonary fibrosis Hypercalcemia Portal hypertension Inflammation of the large intestine Epiphora Diabetes insipidus Emphysema Blurred vision Keratoconjunctivitis sicca Increased antibody level in blood Chorioretinal atrophy Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Hyperthyroidism Hyperuricemia Abnormality of the pleura Chylothorax Eosinophilia Abnormality of the nasal mucosa Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormal liver parenchyma morphology Parotitis Abnormal cardiac ventricular function Increased T cell count Maculopapular exanthema Posterior vitreous detachment Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal trabecular meshwork morphology Recurrent bacterial infections Recurrent viral infections Enlargement of parotid gland Abnormality of skin morphology Cystoid macular edema Chorioretinitis Abnormality of the cerebrospinal fluid Erythema nodosum Generalized lymphadenopathy Skin plaque Abnormality of the lymph nodes Abnormality of the adrenal glands Dacryocystitis Abnormal reproductive system morphology Anterior uveitis Abnormal salivary gland morphology Iridocyclitis Abnormal conjunctiva morphology Vitreous floaters Vitritis Hypercalciuria Ventricular tachycardia Mildly elevated creatine phosphokinase Rhinitis Abnormality of the extraocular muscles Imperfect vocal cord adduction Abnormal hair quantity Dyskinesia Exercise intolerance Ciliary dyskinesia Chronic sinusitis Abnormality of the calf musculature Nasal obstruction Rhinorrhea Chronic rhinitis Productive cough Nonmotile sperm Abnormal central microtubular pair morphology of respiratory motile cilia Bowing of the vocal cords Ankle weakness Cataract Exercise-induced myalgia Bulbar palsy Rimmed vacuoles Bulbar signs Shoulder girdle muscle weakness Abnormal lower motor neuron morphology Tongue fasciculations Axial muscle weakness Distal upper limb amyotrophy Tongue atrophy Weak voice Abnormal upper motor neuron morphology Abnormality of the nasopharynx Vocal cord paresis Inflammatory myopathy Pain Visual impairment Leukopenia Palpitations Lymphadenopathy Hepatic failure Hypopigmentation of the skin Chest pain Sudden cardiac death Syncope Abnormal lung morphology Scarring Subcutaneous nodule Nephrolithiasis Anorexia Decreased liver function Nephrocalcinosis Osteolysis Papule Erythema Fever Alopecia Fatigue Respiratory distress Blindness Congestive heart failure Splenomegaly Headache Glaucoma Facial palsy Weight loss Hypothyroidism Dyspnea Photophobia Proximal muscle weakness Arthritis B lymphocytopenia Hydronephrosis Glioma Eczema Abnormality of dental enamel Narrow palate Pointed chin Hydrops fetalis Lymphedema Wide anterior fontanel Long eyelashes Hypoplasia of dental enamel Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Mitral valve prolapse Overgrowth Abnormality of the fingernails Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Nevus Full cheeks Tetraplegia Ascites Postural instability Sleep disturbance High, narrow palate Hematuria Short chin Acanthosis nigricans Wide nose Bilateral cryptorchidism Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Hyperglycemia Cutis laxa Heart murmur Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Thick vermilion border Tachycardia Syringomyelia Ventriculomegaly Abnormal heart morphology Pectus excavatum Hernia Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Long philtrum Intellectual disability, mild Abnormality of the dentition Atrial septal defect Cardiomyopathy Hydrocephalus Talipes equinovarus Delayed skeletal maturation Ventricular septal defect Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Myopia Hypertension Motor delay Delayed speech and language development Feeding difficulties High palate Ptosis Muscular hypotonia Generalized hypotonia Inguinal hernia Pes cavus Joint hypermobility Joint laxity Astigmatism Joint hyperflexibility Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Wide mouth Postnatal growth retardation Irritability Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Severe short stature Hypoglycemia Coarse facial features Osteopenia Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Proptosis Hyperkeratosis Cerebral cortical atrophy Hypogonadism Hyperhidrosis Osteoporosis Posteriorly rotated ears Central hypotonia Arnold-Chiari type I malformation Medulloblastoma Flat face Hyperactivity Upslanted palpebral fissure Intrauterine growth retardation Cleft palate Impaired T cell function Abnormality of neutrophils Communicating hydrocephalus Agammaglobulinemia Shawl scrotum Protruding tongue Bronchitis Malnutrition Malabsorption Retrognathia Umbilical hernia High forehead Malar flattening Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrotia Mental deterioration Loose anagen hair Low anterior hairline Recurrent sinopulmonary infections Abnormal eyelid morphology Acute leukemia Hearing abnormality Anal stenosis Autoimmune hemolytic anemia Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Chronic diarrhea Attention deficit hyperactivity disorder Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Amenorrhea Convex nasal ridge Prominent nose Cleft upper lip Anal atresia Small for gestational age Prominent nasal bridge Macrocephaly at birth Cardiomyocyte hypertrophy Neonatal hypoglycemia Verrucae Hyperextensibility of the finger joints Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Lack of skin elasticity Central apnea Large forehead Schwannoma Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Broad femoral neck Abnormality of earlobe Bladder carcinoma Body odor Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Ulnar deviation of the wrist Limited elbow movement Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Absence of CD8-positive T cells



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