Arthritis, and Primary amenorrhea

Diseases related with Arthritis and Primary amenorrhea

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


Top matches:

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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 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 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

Low match HEMOPHILIA B; HEMB


Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (OMIM ), which results from deficiency of coagulation factor VIII (F8 ). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993).Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.

HEMOPHILIA B; HEMB Is also known as christmas disease|factor ix deficiency|f9 deficiency|plasma thromboplastin component deficiency

Related symptoms:

  • Immunodeficiency
  • Leukemia
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHILIA B; HEMB

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Primary amenorrhea

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Amenorrhea Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthropathy Recurrent infections Neoplasm Umbilical hernia Purpura Alcoholism Fatigue Cardiomyopathy Abdominal pain Intellectual disability Elevated hepatic transaminase Inguinal hernia Cirrhosis Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Impotence Increased serum ferritin Increased serum iron Seizures Arrhythmia Osteoporosis Diabetes mellitus Osteoarthritis Hypothyroidism Hepatomegaly Obesity Cognitive impairment Hearing impairment Scoliosis Short stature Abnormal facial shape Immunodeficiency

Rare Symptoms - Less than 30% cases


Vitiligo Interrupted aortic arch Aplasia of the thymus Conotruncal defect Elevated transferrin saturation Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Perimembranous ventricular septal defect Autoimmune hemolytic anemia Graves disease Meningocele Aplasia of the uterus Insulin resistance Autoimmune thrombocytopenia Posterior embryotoxon Juvenile rheumatoid arthritis Myelomeningocele Bipolar affective disorder Truncus arteriosus Hepatitis Seborrheic dermatitis Sacral meningocele Arteria lusoria Cleft palate Microdontia Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Short neck Ventricular septal defect Fever Delayed speech and language development High palate Lymphopenia Hypertension Right aortic arch with mirror image branching Congestive heart failure Splenomegaly Microcephaly Hypogonadism Global developmental delay Dilated cardiomyopathy Ptosis Micrognathia Delayed puberty Azoospermia Acne Inflammation of the large intestine Hypoparathyroidism Unilateral renal agenesis Abnormality of the pinna Hemolytic anemia Hypocalcemia Spina bifida Abnormality of cardiovascular system morphology Joint hemorrhage Renal dysplasia Prolonged prothrombin time Low posterior hairline Tetralogy of Fallot Behavioral abnormality Blepharophimosis Autoimmunity Specific learning disability Renal agenesis Intracranial hemorrhage Abnormal bleeding Epistaxis Chorea Bulbous nose Spontaneous, recurrent epistaxis Bifid uvula Intramuscular hematoma Nasal speech Paresthesia Depressivity Psoriasiform dermatitis Rheumatoid arthritis Patent ductus arteriosus Abnormal heart morphology Cholelithiasis Posteriorly rotated ears Retrognathia Schizophrenia Thrombocytopenia Arnold-Chiari malformation Bicuspid aortic valve Prolonged bleeding after surgery Severe short stature Pneumonia Delayed skeletal maturation Failure to thrive Poor wound healing Persistent bleeding after trauma Motor delay Diarrhea Brachydactyly Respiratory distress Menometrorrhagia Prolonged bleeding time Prolonged partial thromboplastin time Intrauterine growth retardation Hyperlipoproteinemia Growth delay Axonal degeneration Polyneuropathy Muscle cramps Abnormality of the skin Myocardial infarction Hoarse voice Joint stiffness Reduced tendon reflexes Pes cavus High forehead Ragged-red muscle fibers Abnormality of mitochondrial metabolism Babinski sign Oral-pharyngeal dysphagia Coronary artery atherosclerosis Gait disturbance Abnormal adipose tissue morphology Gout Increased HDL cholesterol concentration Reduced factor IX activity Neuropathic arthropathy Decreased LDL cholesterol concentration Tachycardia Prolonged whole-blood clotting time Prolonged bleeding after dental extraction Peripheral neuropathy Oligomenorrhea Lipoma Delayed onset bleeding Macrocytic anemia Multiple lipomas Cephalohematoma Prominent forehead Lymphoid interstitial pneumonia Hypoglycemia Subcutaneous nodule Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Osteolysis Joint dislocation Wormian bones Gingival overgrowth Thin skin Decreased fertility Mitral valve prolapse Migraine Limitation of joint mobility Abdominal distention Sleep disturbance Joint hypermobility Nausea Vertigo Elbow dislocation Keratoconus Abnormality of the foot Venous insufficiency Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Abnormality of the menstrual cycle Ascending tubular aorta aneurysm Gastrointestinal dysmotility Keratoconjunctivitis sicca Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the wrist Atypical scarring of skin Acrocyanosis Gingivitis Soft skin Aortic root aneurysm Striae distensae Joint hyperflexibility Malabsorption Deeply set eye Hypohidrosis High pitched voice Keratitis Reduced number of teeth Short long bone Hypercholesterolemia Increased body weight Short toe Chronic diarrhea External genital hypoplasia Abnormal lung morphology Depressed nasal ridge Blue sclerae Hypoplasia of penis Eczema Progressive visual loss Growth hormone deficiency Delayed eruption of teeth Truncal obesity Prematurely aged appearance Nausea and vomiting Abnormality of the dentition Hip dislocation Apnea Joint laxity Myalgia Pes planus Gastroesophageal reflux Constipation Dilatation Vomiting Proportionate short stature Epicanthus Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Immune dysregulation Concave nasal ridge Abnormality of the elbow Underdeveloped supraorbital ridges Abnormality of the coagulation cascade Abnormality of iron homeostasis Gastrointestinal hemorrhage Unilateral primary pulmonary dysgenesis Echolalia Abnormality of the endocrine system Pulmonary artery atresia Platybasia Mood swings Paranoia Giant platelets Velopharyngeal insufficiency Psychotic episodes Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Unilateral lung agenesis Hypertelorism Delusions Telecanthus Microtia Short philtrum Attention deficit hyperactivity disorder Craniosynostosis Abnormality of the kidney Cleft lip Hydronephrosis Cerebellar atrophy Narrow mouth Microphthalmia Hypertonia Flexion contracture Low-set ears Strabismus Pierre-Robin sequence Hearing abnormality Astigmatism Peripheral demyelination Hernia Dementia Hyperactivity Absent speech Conductive hearing impairment Anxiety Aggressive behavior Mental deterioration Congenital cataract Pulmonic stenosis Anal atresia Dysmetria Vesicoureteral reflux Underdeveloped nasal alae Psychosis Anal stenosis Obsessive-compulsive behavior Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Apathy Open mouth Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Generalized tonic-clonic seizures Polymicrogyria Hematuria Increased reactive oxygen species production Alopecia Osteopenia Carcinoma Hepatic failure Hepatic steatosis Ascites Cardiomegaly Telangiectasia Hepatic fibrosis Pleural effusion Abnormal joint morphology Osteomalacia Pericarditis Hepatocellular carcinoma Acute hepatic failure Abnormality of endocrine pancreas physiology Bruising susceptibility Leukemia Shoulder pain Reduced factor VII activity Ecchymosis Hemoptysis Menorrhagia Aceruloplasminemia Neoplasm of the liver Constrictive pericarditis Cholangiocarcinoma Microvesicular hepatic steatosis Abnormal glucose tolerance Testicular atrophy Restrictive cardiomyopathy Ataxia Abnormality of the anterior pituitary Iris coloboma Tetany Abnormality of the middle ear Perisylvian polymicrogyria Intellectual disability, severe Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Sclerocornea Vascular tortuosity Exotropia Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Abnormality of the thymus Esophoria Hypospadias Muscle weakness Congenital hepatic fibrosis Generalized hyperpigmentation Portal hypertension Infertility Lethargy Generalized hypotonia Muscular hypotonia Accommodative esotropia Cataract Neutropenia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Genital hernia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Nephritis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more