Arthritis, and Amenorrhea

Diseases related with Arthritis and Amenorrhea

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


Top matches:

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

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

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Other less relevant matches:

Low 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

Low 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

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 Amenorrhea

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Arthropathy Uncommon - Between 30% and 50% cases
Neoplasm 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 Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



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