1. Mendelian
  2. Rare Disease Genes
  3. HLA-C

HLA-C gene related symptoms and diseases

All the information presented here about the HLA-C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to HLA-C gene

Symptoms // Phenotype % Cases
Skin rash Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Anemia Rare - less than 30% cases
Acantholysis Rare - less than 30% cases
Macule Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with HLA-C gene alterations may also develop some of the following symptoms and phenotypes:

  • Rarely - Less than 30% cases

  • Corneal erosion
  • Acute hepatic failure
  • Dysuria
  • Abnormal myocardium morphology
  • Entropion
  • Excessive salivation
  • Abnormality of the pleura
  • Esophageal stricture

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HLA-C gene

Here you will find a list of rare diseases related to the HLA-C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


STEVENS-JOHNSON SYNDROME

Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET

PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

Alternate names

PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as b-all, precursor b-cell acute lymphocytic leukemia, precursor b-cell acute lymphocytic leukemia/lymphoma, precursor b-cell acute lymphoblastic leukemia/lymphoma


More info about PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

SOURCES: ORPHANET

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

Alternate names

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO Is also known as hiv-1, susceptibility to

Description

The pathogenesis of HIV infection and the progression from infection to AIDS vary significantly between exposed individuals. Infection occurs after the virus, which has macrophage (M)- and T lymphocyte (T)-tropic strains and more than 12 subtypes, survives an array of nonspecific, nongenetic environmental and host factors.


More info about HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

SOURCES: OMIM

PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

Description

Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis SusceptibilityPSORS2 (OMIM ) is caused by mutation in the CARD14 gene (OMIM ) on chromosome 17q25, and PSORS14 (OMIM ) is caused by mutation in the IL36RN gene (OMIM ) on chromosome 2q14.Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (OMIM ) on 4q; PSORS4 on 1q21; PSORS5 (OMIM ) on 3q21; PSORS6 (OMIM ) on 19p; PSORS7 (OMIM ) on 1p; PSORS8 (OMIM ) on 16q; PSORS9 (OMIM ) on 4q31; PSORS10 (OMIM ) on 18p11; PSORS11 (OMIM ) on 5q31-q33; PSORS12 (OMIM ) on 20q13; PSORS13 (OMIM ), conferred by variation in the TRAF3IP2 gene (OMIM ) on 6q21; and PSORS15 (OMIM ), conferred by variation in the AP1S3 gene (OMIM ) on 2q36.An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).

Most common symptoms of PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

  • Fever
  • Arthritis
  • Skin rash
  • Scaling skin
  • Psoriasiform dermatitis


More info about PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

SOURCES: OMIM


Potential gene panels for HLA-C gene

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.

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