Arthritis, and Osteoporosis

Diseases related with Arthritis and Osteoporosis

In the following list you will find some of the most common rare diseases related to Arthritis and Osteoporosis 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 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

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

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Other less relevant matches:

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Osteoporosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Arthropathy Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Osteoporosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Hypertension Atrophic scars Muscle weakness Hyperextensible skin Scoliosis Hepatomegaly Bruising susceptibility Pes planus Micrognathia Hernia Neoplasm Diabetes mellitus Osteopenia Elevated hepatic transaminase Recurrent infections

Rare Symptoms - Less than 30% cases


Delayed puberty Abnormal joint morphology Elevated transferrin saturation Congestive heart failure Increased serum iron Increased serum ferritin Arrhythmia Splenomegaly Cirrhosis Hypogonadism Abdominal pain Azoospermia Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Abnormality of the liver Dilated cardiomyopathy Amenorrhea Blue sclerae Umbilical hernia Ptosis Erythema Growth delay Hepatocellular carcinoma Redundant skin Cutis laxa Scarring Inguinal hernia Poor wound healing Joint laxity Soft skin Fragile skin Hallux valgus Joint dislocation Wormian bones Joint hypermobility Joint hyperflexibility Hip dislocation Cardiomyopathy Impotence Osteolysis Joint swelling Rheumatoid arthritis Coarse facial features Kyphosis Severe short stature Gout Hyperlipidemia Gingival overgrowth Subperiosteal bone formation Long clavicles Cigarette-paper scars Xanthelasma Oral ulcer Decreased glomerular filtration rate Premature loss of primary teeth Hip pain Lipemia retinalis Wide cranial sutures Doll-like facies Eczematoid dermatitis Ataxia Seborrheic dermatitis Anemia Fatigue Alopecia Carcinoma Clubbing of fingers Chronic pain Xanthomatosis Palmoplantar cutis laxa Seizures Abnormal bleeding Atrophy of alveolar ridges Severe periodontitis Acidosis Periostosis Hypoglycemia Proteinuria Lactic acidosis Neutropenia Intestinal perforation Enlarged kidney Gingival recession Nephrolithiasis Recurrent bacterial infections Pancreatitis Inflammation of the large intestine Hepatic failure Hyperuricemia Protuberant abdomen Premature loss of permanent teeth Focal segmental glomerulosclerosis Alcoholism Mitral stenosis Restrictive cardiomyopathy Increased reactive oxygen species production Tall stature Acute hepatic failure Flushing Neoplasm of the liver Mitral regurgitation Thin skin Fine hair Microdontia Arachnodactyly Pericarditis Testicular atrophy Carious teeth Autoimmunity Dilatation Abnormality of the dentition Edema Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Microvesicular hepatic steatosis Hoarse voice Osteomalacia Abnormal glucose tolerance Striae distensae Generalized joint laxity Hepatic steatosis Periodontitis Gingivitis Ascites Subarachnoid hemorrhage Hepatitis Gingival bleeding Premature loss of teeth Cardiomegaly Vasculitis Skin vesicle Long nose Agenesis of permanent teeth Telangiectasia Hypermelanotic macule Hepatic fibrosis Insulin resistance Urticaria Pleural effusion Dermal atrophy Osteolytic defects of the phalanges of the hand Low posterior hairline Heart block Methylmalonic acidemia Coxa vara Short long bone Genu varum Metaphyseal widening Spondyloepiphyseal dysplasia Juvenile rheumatoid arthritis Abnormality of the knee Synovitis Flattened epiphysis Enlarged epiphyses Interphalangeal joint contracture of finger Sclerotic vertebral endplates Decreased cervical spine mobility Enlarged interphalangeal joints Enlargement of the proximal femoral epiphysis Morbus Scheuermann Enlarged metacarpophalangeal joints Lethargy Infertility Portal hypertension Generalized hyperpigmentation Abnormal form of the vertebral bodies Waddling gait Abnormality of iron homeostasis Subcutaneous nodule Stroke Sudden cardiac death Type II diabetes mellitus Myocardial infarction Hypertriglyceridemia Atherosclerosis Hypercholesterolemia Glucose intolerance Corneal opacity Generalized osteoporosis Abnormality of the foot Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Gait disturbance Kyphoscoliosis Skeletal dysplasia Difficulty walking Camptodactyly Joint stiffness Camptodactyly of finger Platyspondyly Congenital hepatic fibrosis Abnormality of the anterior pituitary Growth hormone excess Delayed skeletal maturation Squared iliac bones Shoulder dislocation Ventral hernia Bursitis Cleft palate High palate Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Hyperhidrosis Thin eyebrow Skin rash Limitation of joint mobility Large fontanelles Thickened skin Palmoplantar hyperkeratosis Patent foramen ovale Clubbing Acne Disproportionate tall stature Thickened calvaria Knee dislocation Abnormality of the vasculature Abnormality of endocrine pancreas physiology Excessive wrinkled skin Generalized hypotonia Depressed nasal bridge Talipes equinovarus Gastroesophageal reflux Hyperlordosis Recurrent fractures Congenital hip dislocation Delayed gross motor development Hyperextensibility of the finger joints Subcutaneous hemorrhage Thoracic scoliosis Abnormal facial shape Cryptorchidism Abnormality of the skeletal system Short neck Macrotia Papule Webbed neck Mitral valve prolapse Narrow palate Bilateral ptosis Alveolar bone loss around teeth



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