HLA-DQB1 gene related symptoms and diseases

Alternate names

IDIOPATHIC ACHALASIA Is also known as idiopathic achalasia of esophagus, achalasia cardia, primary achalasia

Description

Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.

Most common symptoms of IDIOPATHIC ACHALASIA

• Pain
• Dysphagia
• Vomiting
• Weight loss
• Gastroesophageal reflux

SOURCES: ORPHANET OMIM

Description

Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

Most common symptoms of BULLOUS PEMPHIGOID

• Recurrent infections
• Diabetes mellitus
• Weight loss
• Erythema
• Autoimmunity

SOURCES: ORPHANET MESH

Alternate names

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd, creutzfeldt-jakob disease, familial

Description

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

Most common symptoms of SPORADIC CREUTZFELDT-JAKOB DISEASE

• Ataxia
• Cataract
• Spasticity
• Visual impairment
• Peripheral neuropathy

SOURCES: OMIM ORPHANET

Alternate names

NARCOLEPSY TYPE 1 Is also known as gÉlineau disease, narcoleptic syndrome 1, narcolepsy-cataplexy

Description

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

Most common symptoms of NARCOLEPSY TYPE 1

• Neoplasm
• Obesity
• Hyperactivity
• Abnormality of the eye
• Paralysis

SOURCES: ORPHANET OMIM

Alternate names

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Most common symptoms of MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

• Seizures
• Hearing impairment
• Nystagmus
• Neoplasm
• Muscle weakness

SOURCES: OMIM

Alternate names

LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES Is also known as limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies

Description

Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.

Most common symptoms of LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES

• Seizures
• Neoplasm
• Confusion
• Sleep disturbance
• Memory impairment

SOURCES: ORPHANET

Alternate names

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1, gluten-sensitive enteropathy, susceptibility to, 1

Description

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

Most common symptoms of CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

• Seizures
• Short stature
• Ataxia
• Failure to thrive
• Anemia

SOURCES: OMIM

Description

Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.

SOURCES: ORPHANET

Alternate names

NARCOLEPSY TYPE 2 Is also known as narcolepsy without cataplexy

Description

Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.

Most common symptoms of NARCOLEPSY TYPE 2

• Behavioral abnormality
• Sleep disturbance
• Hallucinations
• Insomnia
• Excessive daytime somnolence

SOURCES: ORPHANET