Arthritis, and Increased bone mineral density

Diseases related with Arthritis and Increased bone mineral density

In the following list you will find some of the most common rare diseases related to Arthritis and Increased bone mineral density that can help you solving undiagnosed cases.


Top matches:

Low match CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2


Related symptoms:

  • Hypertension
  • Osteoporosis
  • Diabetes mellitus
  • Stroke
  • Sudden cardiac death


SOURCES: OMIM MESH MENDELIAN

More info about CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2

Low match MELORHEOSTOSIS


Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

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Other less relevant matches:

Low match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

Low match X-LINKED HYPOPHOSPHATEMIA


X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

X-LINKED HYPOPHOSPHATEMIA Is also known as xlh|x-linked hypophosphatemic rickets

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormality of the dentition
  • Craniosynostosis
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED HYPOPHOSPHATEMIA

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low match FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME


Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.

FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME Is also known as cortical hyperostosis with hyperphosphatemia|calcinosis, tumoral, with hyperphosphatemia|hftc|hhs|hyperostosis with hyperphosphatemia|hypercalcemic tumoral calcinosis|tumoral calcinosis, hyperphosphatemic, familial|phptc|hyperostosis-hyperphosphatemia syn

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Dilatation
  • Arthritis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME

Low match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Increased bone mineral density

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Bone pain Uncommon - Between 30% and 50% cases
Coxa vara Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Increased bone mineral density. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Osteoarthritis Hypertension Arthralgia Rickets Abnormality of the dentition Craniosynostosis Genu varum Arthropathy Hypophosphatemia Osteomalacia Osteoporosis Spondyloepiphyseal dysplasia Kyphosis Skeletal dysplasia Flexion contracture

Rare Symptoms - Less than 30% cases


Genu valgum Joint swelling Bowing of the legs Joint stiffness Kyphoscoliosis Short long bone Waddling gait Platyspondyly Chronic pain Abnormality of epiphysis morphology Abnormality of the metaphysis Gait disturbance Hypophosphatemic rickets Rheumatoid arthritis Hearing impairment Dilatation Hemangioma Abnormality of the foot Hyperostosis Respiratory distress Enlarged epiphyses C1-C2 subluxation Delayed pubic bone ossification Enlargement of the proximal femoral epiphysis Enlarged interphalangeal joints Narrow greater sacrosciatic notches Sclerotic vertebral endplates Spondyloepimetaphyseal dysplasia Decreased cervical spine mobility Methylmalonic acidemia Anterior rib cupping Hypoplastic pubic bone Subperiosteal bone formation Flattened epiphysis Difficulty walking Periostosis Calcinosis cutis Periostitis Increased renal tubular phosphate reabsorption Decreased renal tubular phosphate excretion Conjunctival whitish salt-like deposits Muscle weakness Camptodactyly Synovitis Camptodactyly of finger Interphalangeal joint contracture of finger Club-shaped proximal femur Abnormal form of the vertebral bodies Enlarged metacarpophalangeal joints Metaphyseal widening Juvenile rheumatoid arthritis Abnormality of the knee Morbus Scheuermann Constipation Seizures Pes planus Hypertelorism Cleft palate Brachydactyly Myopia Talipes equinovarus Hernia Inguinal hernia Osteopenia Hyperlordosis Intellectual disability Pectus carinatum Micromelia Flat face Retinal detachment Short femoral neck Limb undergrowth Abnormality of the urinary system Metaphyseal irregularity Short thorax Pulmonary insufficiency Generalized hypotonia Brachycephaly Feeding difficulties Fever Vomiting Headache Pneumonia Delayed epiphyseal ossification Hypoplasia of the odontoid process Protuberant abdomen Respiratory failure Premature loss of primary teeth Proptosis Vascular calcification Disproportionate short stature Increased intracranial pressure Hypercalcemia Premature loss of teeth Abnormality of the sternum Papilledema Chondrocalcinosis Pulp stones Generalized muscle weakness Septic arthritis Osteopoikilosis Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Ectopic ossification in muscle tissue Scleroderma Coarse facial features Corneal opacity Subcutaneous nodule Gingival overgrowth Osteolysis Generalized osteoporosis Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Abnormality of the vasculature Dermal atrophy Hip dysplasia Hypercholesterolemia Diabetes mellitus Stroke Sudden cardiac death Type II diabetes mellitus Myocardial infarction Hypertriglyceridemia Atherosclerosis Hyperlipidemia Glucose intolerance Growth abnormality Gout Failure to thrive Skeletal muscle atrophy Abnormality of the skeletal system Edema Nevus Lymphedema Cranial nerve paralysis Falls Overgrowth Angioid streaks of the fundus Anemia Muscle cramps Elevated alkaline phosphatase Hypercalciuria Hyperparathyroidism Spinal canal stenosis Abnormality of the lower limb Renal phosphate wasting Abnormality of the skin Carious teeth Hypoplasia of dental enamel Nephrocalcinosis Osteomyelitis Taurodontia Hyperphosphatemia Calcinosis Foam cells Ectopic calcification Delayed eruption of teeth Dolichocephaly Vertebral fusion Abnormality of the epiphysis of the femoral head Avascular necrosis of the capital femoral epiphysis Broad femoral neck Flat capital femoral epiphysis Shallow acetabular fossae Abnormal bone ossification Abnormality of bone mineral density Arthralgia of the hip Irregular capital femoral epiphysis Abnormal ossification involving the femoral head and neck Fatigue Wide proximal femoral metaphysis Recurrent fractures Joint dislocation Abnormality of dental enamel Rachitic rosary Enthesitis Tooth abscess Sensorineural hearing impairment Metaphyseal dappling



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