Edema, and Dysphagia

Diseases related with Edema and Dysphagia

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

Top matches:

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Other less relevant matches:

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Top 5 symptoms//phenotypes associated to Edema and Dysphagia

Symptoms // Phenotype % cases
Respiratory distress Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory failure Gait disturbance Respiratory insufficiency Flexion contracture

Rare Symptoms - Less than 30% cases

Rigidity Abnormality of the thorax Vomiting Diarrhea Abdominal pain Cough Breech presentation Nausea Ascites Hypotension Type 1 muscle fiber predominance Oral-pharyngeal dysphagia Respiratory insufficiency due to muscle weakness Congestive heart failure Waddling gait Edema of the dorsum of hands Hepatomegaly Dilated cardiomyopathy Hypertrophic cardiomyopathy Proximal muscle weakness Cardiomyopathy Scoliosis Failure to thrive Nemaline bodies Skeletal muscle atrophy Anemia Myalgia Neonatal hypotonia Pain Pulmonary hypoplasia Premature birth Decreased fetal movement Muscle weakness Arthrogryposis multiplex congenita Hypertonia Elevated serum creatine phosphokinase Spasticity Facial palsy Thin ribs Chest pain Axial muscle weakness Myotonia Generalized hypotonia Motor delay Neoplasm Facial diplegia Myopathic facies Multiple myeloma Abnormality of the larynx Ovarian cyst Chronic lymphatic leukemia Inspiratory stridor Facial edema Ophthalmoplegia Angioedema Pharyngeal edema Dermatographic urticaria Cryoglobulinemia Upper airway obstruction Intestinal edema Abnormal soft palate morphology Abnormal respiratory system morphology Lymphoproliferative disorder Peripheral axonal neuropathy Axonal degeneration Abnormality of metabolism/homeostasis Hypokinesia Adducted thumb Severe muscular hypotonia Abnormality of the uvula Large fontanelles Multiple prenatal fractures Abnormality of the diaphragm Peripheral neuropathy Erythema Stridor Autoimmunity Leukemia Paresthesia Hoarse voice Vasculitis Polycystic ovaries Systemic lupus erythematosus Urticaria Glomerulonephritis Increased connective tissue Intellectual disability Tongue edema Infantile muscular hypotonia Feeding difficulties in infancy Hyperlordosis Respiratory tract infection Paralysis Limb muscle weakness Genu valgum Falls Generalized muscle weakness Frequent falls Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture EMG: myopathic abnormalities Retrognathia Congenital contracture Akinesia Mask-like facies Mildly elevated creatine phosphokinase Bulbar palsy Spinal rigidity Hypoventilation EMG: neuropathic changes Fetal akinesia sequence Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Apnea Pes cavus Abnormal epiglottis morphology Skin vesicle Laryngeal edema Limbal edema Abnormality of salivation Short nose Deeply set eye Hydronephrosis Microtia Sepsis Limitation of joint mobility Underdeveloped nasal alae Abnormal blistering of the skin Dehydration Abnormality of the outer ear Glomerulosclerosis Fragile skin Recurrent respiratory infections Aplasia cutis congenita Skin erosion Oral mucosal blisters Ureterocele Abnormality of the stomach Aplasia of the bladder Congenital pyloric atresia High palate Feeding difficulties Hyperreflexia Abnormality of the skeletal system Pectus excavatum Areflexia Hyporeflexia Renal dysplasia Broad-based gait Micropenis Thickened skin Peritoneal mesothelioma Pericardial mesothelioma Hernia Hyperkeratosis Gastroesophageal reflux Carcinoma Nausea and vomiting Palmoplantar keratoderma Postural instability Ectodermal dysplasia Gastrointestinal hemorrhage Epidermal acanthosis Palmoplantar hyperkeratosis Obstruction of the superior vena cava Poor suck Squamous cell carcinoma Poor appetite Parakeratosis Abnormality of the mouth Hiatus hernia Esophagitis Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Pleural mesothelioma Malignant mesothelioma Clubbing of toes Hyperkalemia Global developmental delay Nystagmus Muscular hypotonia Gait ataxia Acidosis Muscular hypotonia of the trunk Lactic acidosis Decreased activity of the pyruvate dehydrogenase complex Muscle cramps EMG abnormality Ophthalmoparesis Skeletal muscle hypertrophy Blepharospasm Constitutional symptom Dysesthesia Muscular edema Fever Lymphadenopathy Abnormal lung morphology Pleural effusion Intestinal obstruction Night sweats Abnormality of the pleura Abnormality of cardiovascular system physiology Functional respiratory abnormality Fourth cranial nerve palsy Plantar hyperkeratosis Abnormality of the mediastinum Hypospadias Gowers sign Semantic dementia Delayed speech and language development Arrhythmia Osteoporosis Difficulty walking Distal muscle weakness Muscular dystrophy Macroglossia Palpitations Seizures Scapular winging Limb-girdle muscular dystrophy Increased variability in muscle fiber diameter Perseveration Calf muscle hypertrophy Myoglobinuria Proximal amyotrophy Limb-girdle muscle weakness Achilles tendon contracture Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Tip-toe gait Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Reduced muscle fiber beta sarcoglycan Low-set ears Bulimia Primitive reflex Diffuse palmoplantar hyperkeratosis Aggressive behavior Esophageal neoplasm Esophageal carcinoma Abnormality of esophagus physiology Abnormal large intestine morphology Esophageal leukoplakia Ataxia Cognitive impairment Dysarthria Cerebral atrophy Babinski sign Dementia Cerebral cortical atrophy Chorea Disinhibition Neuronal loss in central nervous system Stereotypy Apathy Personality changes Emotional lability Amyotrophic lateral sclerosis Agitation Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Late-onset distal muscle weakness


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