Autoimmunity, and Abnormality of the skeletal system

Diseases related with Autoimmunity and Abnormality of the skeletal system

In the following list you will find some of the most common rare diseases related to Autoimmunity and Abnormality of the skeletal system that can help you solving undiagnosed cases.


Top matches:

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

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Other less relevant matches:

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Low match ACETYLATION, SLOW


ACETYLATION, SLOW Is also known as inh inactivation, slow|isoniazid inactivation, slow|slow acetylator phenotype

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Abnormality of metabolism/homeostasis
  • Systemic lupus erythematosus
  • Bladder neoplasm


SOURCES: OMIM MENDELIAN

More info about ACETYLATION, SLOW

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (OMIM ), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G ) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 Is also known as c8b deficiency|complement component 8b deficiency|c8 beta deficiency|c8 deficiency, type ii

Related symptoms:

  • Arthritis
  • Meningitis
  • Antinuclear antibody positivity
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2

Low match AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS


Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.

AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle|familial systemic lupus erythematosus|familial sle

Related symptoms:

  • Systemic lupus erythematosus
  • Nephritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1


AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 Is also known as vamas2|autoimmune disease susceptibility locus, chromosome 1p-related|vitiligo-associated multiple autoimmune disease susceptibility 2

Related symptoms:

  • Autoimmunity
  • Thyroiditis
  • Hashimoto thyroiditis
  • Vitiligo


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1

Low match DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6


Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 (OMIM ), caused by mutations in the DIAPH1 gene (OMIM ), is associated with progression to profound deafness by the fourth decade of life (summary by Bespalova et al., 2001).

DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 Is also known as deafness, autosomal dominant 14|dfna14|deafness, autosomal dominant 38|dfna38

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Autoimmunity
  • Vertigo
  • Tinnitus


SOURCES: MESH OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6

Top 5 symptoms//phenotypes associated to Autoimmunity and Abnormality of the skeletal system

Symptoms // Phenotype % cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Recurrent Neisserial infections Rare - less than 30% cases
Hashimoto thyroiditis Rare - less than 30% cases
Meningitis Rare - less than 30% cases
C8 deficiency Rare - less than 30% cases
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Other less frequent symptoms

Patients with Autoimmunity and Abnormality of the skeletal system. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Thyroiditis Nephritis Vitiligo Hearing impairment Sensorineural hearing impairment Vertigo Anemia Tinnitus Arthritis Vestibular dysfunction Progressive sensorineural hearing impairment Graves disease Old-aged sensorineural hearing impairment Antinuclear antibody positivity Angioedema Bladder neoplasm Abnormality of metabolism/homeostasis Peripheral neuropathy Neoplasm Thrombocytopenia Recurrent mycobacterial infections Recurrent infections Immunodeficiency Diarrhea Abnormal erythrocyte morphology Leukopenia Hemolytic anemia Leukemia Low-frequency sensorineural hearing impairment



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