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Complement component C1s deficiency(C1SD)

MedGen UID:
462428
Concept ID:
C3151078
Disease or Syndrome
Synonyms: C1s deficiency; Complement 1s deficiency
 
Gene (location): C1S (12p13.31)
 
Monarch Initiative: MONDO:0013419
OMIM®: 613783

Definition

A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. [from MONDO]

Additional description

From OMIM
Complement component C1s deficiency (C1SD) is an autosomal recessive disorder characterized by the presence of autoimmune diseases including a systemic lupus erythematosus-like disorder, Hashimoto thyroiditis, autoimmune hepatitis, and chronic glomerulonephritis (Inoue et al., 1998, Dragon-Durey et al., 2001).  http://www.omim.org/entry/613783

Clinical features

From HPO
Hepatitis
MedGen UID:
5515
Concept ID:
C0019158
Disease or Syndrome
Inflammation of the liver.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
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 Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.\n\nOne of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.\n\nOther signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.\n\nHashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.
Abnormality of complement system
MedGen UID:
870756
Concept ID:
C4025213
Pathologic Function
An abnormality of the complement system.

Recent clinical studies

Etiology

Das N, Giri A, Chakraborty S, Bhattacharjee P
Mutat Res Genet Toxicol Environ Mutagen 2016 Oct;809:50-56. Epub 2016 Sep 9 doi: 10.1016/j.mrgentox.2016.09.006. PMID: 27692299

Diagnosis

Kleer JS, Skattum L, Dubler D, Fischer I, Zgraggen A, Mundwiler E, Kim MJ, Trendelenburg M
Front Immunol 2023;14:1257525. Epub 2024 Feb 26 doi: 10.3389/fimmu.2023.1257525. PMID: 38469558Free PMC Article

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