Abnormality of the skeletal system, and Arthritis

Diseases related with Abnormality of the skeletal system and Arthritis

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


Top matches:

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 Is also known as gout susceptibility 4|gout4

Related symptoms:

  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1


Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait LociSee also UAQTL2 (see {612076}), conferred by variation in the SLC2A9 gene (OMIM ) on chromosome 4p; UAQTL4 (OMIM ), conferred by variation in the SLC17A3 gene (OMIM ) on chromosome 6p21; UAQTL5 (OMIM ), associated with a SNP on chromosome 19q13; and UAQTL6 (OMIM ), associated with a SNP on chromosome 1.

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Is also known as gout1|gout susceptibility 1

Related symptoms:

  • Arthritis
  • Abnormality of the skin
  • Hyperuricemia
  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

Low match OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2


In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (OMIM ).

OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 Is also known as dipoa|hoa|hand osteoarthritis|oadip|osteoarthritis of distal interphalangeal joints

Related symptoms:

  • Arthritis
  • Osteoarthritis
  • Heberden's node


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2

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Other less relevant matches:

Low match OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3


OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 Is also known as osteoarthritis of knee/hip

Related symptoms:

  • Arthralgia
  • Joint stiffness
  • Osteoarthritis of the first carpometacarpal joint
  • Osteoarthritis of the distal interphalangeal joint


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3

Low match OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1


Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to OsteoarthritisSusceptibility to osteoarthritis has been associated with variation in other genes: OS2 (OMIM ) with variation in the MATN3 gene (OMIM ) on chromosome 2p24; OS3 (OMIM ) with variation in the ASPN gene (OMIM ) on chromosome 9q22; and OS5 (OMIM ) with variation in the GDF5 gene (OMIM ) on chromosome 20q11.Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4 ) and 3p24 (OS6 ).

OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 Is also known as oa|osteoarthrosis|osteoarthritis of hip, female-specific, susceptibility to

Related symptoms:

  • Pain
  • Joint stiffness
  • Osteoarthritis
  • Abnormality of pelvic girdle bone morphology
  • Hip osteoarthritis


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1

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 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1


Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.

Related symptoms:

  • Headache
  • Arthritis
  • Meningitis
  • Recurrent streptococcus pneumoniae infections


SOURCES: MESH OMIM MENDELIAN

More info about INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1

Low match HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY


Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

Related symptoms:

  • Fever
  • Renal insufficiency
  • Arthritis
  • Nephropathy
  • Nephrolithiasis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY

Low match PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS


Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

Related symptoms:

  • Arthritis
  • Autoimmunity
  • Inflammatory abnormality of the skin
  • Psoriasiform dermatitis
  • Juvenile rheumatoid arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS

Low match SYNOVIAL SARCOMA


Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).

SYNOVIAL SARCOMA Is also known as synovialosarcoma

Related symptoms:

  • Neoplasm
  • Pain
  • Arthritis
  • Sarcoma
  • Schwannoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNOVIAL SARCOMA

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

Symptoms // Phenotype % cases
Gout Uncommon - Between 30% and 50% cases
Meningitis Rare - less than 30% cases
Hyperuricemia Rare - less than 30% cases
Osteoarthritis Rare - less than 30% cases
Joint stiffness Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Pain Podagra Autoimmunity Inflammatory abnormality of the skin Psoriasiform dermatitis Juvenile rheumatoid arthritis Nail pits Sarcoma Neoplasm Hyperuricosuria Schwannoma Synovitis Soft tissue sarcoma Fibrosarcoma Synovial sarcoma Excessive purine production Renal insufficiency Acute kidney injury Hip osteoarthritis Abnormality of the skin Heberden's node Arthralgia Osteoarthritis of the first carpometacarpal joint Osteoarthritis of the distal interphalangeal joint Abnormality of pelvic girdle bone morphology Antinuclear antibody positivity Nephrolithiasis C8 deficiency Recurrent Neisserial infections Headache Recurrent streptococcus pneumoniae infections Fever Nephropathy Bursitis



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