Arthritis, and Bruising susceptibility

Diseases related with Arthritis and Bruising susceptibility

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


Top matches:

Medium match FACTOR VII DEFICIENCY


Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000).Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations.

FACTOR VII DEFICIENCY Is also known as f7 deficiency|hypoproconvertinemia

Related symptoms:

  • Pain
  • Arthritis
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis


SOURCES: OMIM MENDELIAN

More info about FACTOR VII DEFICIENCY

Medium match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Medium match LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

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Other less relevant matches:

Medium 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

Medium match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Medium 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

Medium match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Medium 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

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Top 5 symptoms//phenotypes associated to Arthritis and Bruising susceptibility

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Atrophic scars Common - Between 50% and 80% cases
Hyperextensible skin Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pes planus Joint laxity Soft skin Joint hypermobility Umbilical hernia Pain Poor wound healing Mitral valve prolapse Scoliosis Periodontitis Fragile skin Osteoporosis Arthralgia Short stature Micrognathia Arachnodactyly Joint dislocation Generalized hypotonia Blue sclerae Joint hyperflexibility Dilatation Scarring

Rare Symptoms - Less than 30% cases


Thin skin Hiatus hernia Mitral regurgitation Hyperextensibility of the finger joints Muscle weakness Hip dislocation Generalized joint laxity Spondylolisthesis Aortic dissection Cutis laxa Peripheral neuropathy Stroke Severe periodontitis Gastrointestinal hemorrhage Abnormal joint morphology Aortic aneurysm Striae distensae Subarachnoid hemorrhage Abnormality of the skeletal system Cigarette-paper scars Flexion contracture Hallux valgus Rectal prolapse Gingivitis Premature loss of teeth Gingival bleeding Arthropathy Joint hemorrhage Rheumatoid arthritis Intracranial hemorrhage Intramuscular hematoma Gingival recession Neoplasm Epistaxis Abnormal bleeding Skin vesicle Hypertelorism Alveolar bone loss around teeth Subcutaneous spheroids Hyperextensibility at elbow Atrophy of alveolar ridges Premature loss of permanent teeth Bowel diverticulosis Arterial rupture Chronic pain Premature loss of primary teeth Intestinal perforation Long nose Irregularly spaced teeth Palmoplantar cutis laxa Mitral stenosis Urticaria Agenesis of permanent teeth Microdontia Ambiguous genitalia, female Premature arteriosclerosis Quadricuspid aortic valve Edema Abnormality of the dentition Recurrent infections Erythema Autoimmunity Carious teeth Fine hair Hyperextensibility of the knee Premature birth following premature rupture of fetal membranes Tall stature Gingival overgrowth Hoarse voice Vasculitis Osteolysis Dermal atrophy Cleft palate Hypermelanotic macule Myxomatous mitral valve degeneration Myopia High palate Dural ectasia Aortic root aneurysm Osteochondritis Dissecans Thoracic aortic aneurysm Ectopia lentis Hip osteoarthritis Infantile muscular hypotonia Recurrent urinary tract infections Arterial tortuosity Inflammatory abnormality of the skin Asthma Congenital adrenal hyperplasia Abdominal aortic aneurysm Protrusio acetabuli Intervertebral disc degeneration Retinal detachment Abnormality of the foot Uterine prolapse Knee osteoarthritis Motor delay Kyphoscoliosis Hypertension Low back pain Varicose veins Atrial septal defect Aortic regurgitation Headache Epicanthus Camptodactyly Pulmonic stenosis Migraine Dental malocclusion Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Bicuspid aortic valve Bladder diverticulum Back pain Molluscoid pseudotumors Narrow maxilla Disproportionate tall stature Abnormality of the sternum Premature rupture of membranes Slender finger Dilatation of the cerebral artery Lop ear Eczematoid dermatitis Patent ductus arteriosus Muscular hypotonia Arteriosclerosis Recurrent fractures Decreased platelet glycoprotein IIb-IIIa Abnormal granulocyte morphology Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Depressed nasal bridge Talipes equinovarus Kyphosis Gastroesophageal reflux Hyperlordosis Congenital hip dislocation Recurrent bacterial skin infections Wormian bones Delayed gross motor development Excessive wrinkled skin Subcutaneous hemorrhage Anemia Blindness Muscular dystrophy Hematuria Thromboembolism Joint swelling Rectal abscess Abnormal thrombocyte morphology Dyschromatopsia Nephroblastoma Menorrhagia Hemoptysis Ecchymosis Prolonged prothrombin time Spontaneous, recurrent epistaxis Reduced factor VII activity Shoulder pain Fever Irritability Lymphoma Intellectual disability Juvenile rheumatoid arthritis Intellectual disability, severe Immunodeficiency Pneumonia Confusion Otitis media Recurrent bacterial infections Recurrent skin infections Leukocytosis Cellulitis Peritonitis Abnormality of the elbow Prolonged partial thromboplastin time Muscle fiber splitting Vesicoureteral reflux Bursitis Skeletal muscle atrophy Fatigue Arrhythmia Proximal muscle weakness Myalgia Sensory neuropathy Single transverse palmar crease Bifid uvula Ambiguous genitalia Shoulder dislocation Spina bifida Spina bifida occulta Psoriasiform dermatitis Unilateral renal agenesis Adrenal hypoplasia Adrenal hyperplasia Proximal amyotrophy Bicornuate uterus Precocious atherosclerosis Increased connective tissue Ventral hernia Squared iliac bones Stomatitis Short neck Spontaneous hematomas Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Abnormal facial shape Cryptorchidism Ptosis Macrotia Knee dislocation Osteopenia Papule Webbed neck Low posterior hairline Narrow palate Redundant skin Bilateral ptosis Thoracic scoliosis Abnormality of the vasculature Thin eyebrow Membranous ventricular septal aneurysm



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