HLA-DRB1 gene related symptoms and diseases
All the information presented here about the HLA-DRB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HLA-DRB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Autoimmunity | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Weight loss | Uncommon - Between 30% and 50% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Arthritis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HLA-DRB1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Pulmonary fibrosis
- Fatigue
- Abnormality of the skin
- Diarrhea
- Gastroesophageal reflux
- Dysphagia
- Sleep disturbance
- Pleural effusion
And 250 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HLA-DRB1 gene
Here you will find a list of rare diseases related to the HLA-DRB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BULLOUS PEMPHIGOID
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
More info about BULLOUS PEMPHIGOID
SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS
Alternate names
SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia, systemic juvenile rheumatoid arthritis, still disease, systemic polyarthritis
Description
Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.
Most common symptoms of SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS
- Visual impairment
- Hepatomegaly
- Fever
- Splenomegaly
- Visual loss
More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma
Description
Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
Most common symptoms of LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
- Dysphagia
- Gastroesophageal reflux
- Autoimmunity
- Nausea and vomiting
- Abnormality of skin pigmentation
More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
FOLLICULAR LYMPHOMA
Alternate names
FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2
Description
Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.
Most common symptoms of FOLLICULAR LYMPHOMA
- Neoplasm
- Fever
- Fatigue
- Diarrhea
- Splenomegaly
More info about FOLLICULAR LYMPHOMA
NARCOLEPSY TYPE 1
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
More info about NARCOLEPSY TYPE 1
SARCOIDOSIS
Alternate names
SARCOIDOSIS Is also known as boeck sarcoid, besnier-boeck-schaumann disease, sarcoidosis, boeck's sarcoid
Description
Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
Most common symptoms of SARCOIDOSIS
- Seizures
- Pain
- Cataract
- Anemia
- Visual impairment
More info about SARCOIDOSIS
LIMITED SYSTEMIC SCLEROSIS
Alternate names
LIMITED SYSTEMIC SCLEROSIS Is also known as systemic sclerosis sine scleroderma
Description
Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.
Most common symptoms of LIMITED SYSTEMIC SCLEROSIS
- Hypertension
- Dysphagia
- Respiratory distress
- Diarrhea
- Gastroesophageal reflux
More info about LIMITED SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma, diffuse cutaneous systemic scleroderma, progressive cutaneous systemic sclerosis
Description
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
Most common symptoms of DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
- Muscle weakness
- Pain
- Flexion contracture
- Hypertension
- Dysphagia
More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle
Description
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
More info about SYSTEMIC LUPUS ERYTHEMATOSUS
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
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
More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
SOURCES: OMIM
LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES
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
More info about LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES
SOURCES: ORPHANET
PEDIATRIC MULTIPLE SCLEROSIS
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.
More info about PEDIATRIC MULTIPLE SCLEROSIS
SOURCES: ORPHANET
NARCOLEPSY TYPE 2
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
More info about NARCOLEPSY TYPE 2
SOURCES: ORPHANET
Search interest in HLA-DRB1
Potential gene panels for HLA-DRB1 gene
Narcolepsy Risk Factor Panel
Germany.
By Bioscientia GmbH Center for Human Genetics Narcolepsy Risk Factor that also includes the following genes: HLA-DQB1 HLA-DRB1
More info about this panel Germany.
HLA-DRB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HLA-DRB1 gene.
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITGA7 SYNE2 CARS2 IFNGR2 KAT6B GJA5 GRHL2