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.

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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

SOURCES: ORPHANET MESH

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

NARCOLEPSY TYPE 1


Alternate names

NARCOLEPSY TYPE 1 Is also known as g√Člineau 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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

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


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

HLA-DRB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HLA-DRB1 gene.

More info about this panel

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


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