Arthritis, and Hypogonadism

Diseases related with Arthritis and Hypogonadism

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


Top matches:

Low 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

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 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 NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match BARDET-BIEDL SYNDROME 11; BBS11


BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Obesity
  • Hypogonadism
  • Polydactyly
  • Abnormality of the kidney
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 11; BBS11

Low match HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Abnormality of the dentition
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) 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 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

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

Top 5 symptoms//phenotypes associated to Arthritis and Hypogonadism

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Increased serum ferritin Impotence Osteopenia Osteoarthritis Cirrhosis Abnormality of the liver Abdominal pain Anemia Arthropathy Delayed puberty Hepatic steatosis Short stature Abnormality of the skeletal system Osteoporosis Arrhythmia Dilated cardiomyopathy Congestive heart failure Hyperpigmentation of the skin Fatigue Elevated hepatic transaminase Amenorrhea Scoliosis Increased serum iron

Rare Symptoms - Less than 30% cases


Hypotrichosis Growth delay Brachydactyly Limitation of joint mobility Kyphosis Delayed skeletal maturation Hyperlordosis Short metacarpal Abnormality of the dentition Growth hormone deficiency Sensorineural hearing impairment Carious teeth Prolonged prothrombin time Thin nail Hyperinsulinemia Metaphyseal widening Delayed eruption of teeth Decreased serum estradiol Decreased testosterone in males Intracranial hemorrhage Intellectual disability Micrognathia Cataract Macrotia Sparse hair Stroke Enlarged joints Hearing impairment Elevated transferrin saturation Insulin resistance Congenital hepatic fibrosis Generalized hyperpigmentation Ataxia Neoplasm Azoospermia Infertility Carcinoma Splenomegaly Hepatomegaly Hypertension Cardiomegaly Hepatic fibrosis Diabetes mellitus Abnormal joint morphology Dementia Intramuscular hematoma Decreased body weight Abnormal facial shape Hemoptysis Left ventricular hypertrophy Dental crowding Hypohidrosis Sparse and thin eyebrow Reduced factor VII activity Aortic valve stenosis Failure to thrive Aspiration Increased bone mineral density Coxa valga Hypergonadotropic hypogonadism Aminoaciduria Osteolysis Atherosclerosis Hyperlipidemia Acanthosis nigricans Hypercholesterolemia Relative macrocephaly Dermal atrophy Nasal speech Menorrhagia Lipodystrophy Premature ovarian insufficiency Abnormality of the thorax Broad-based gait Hypertriglyceridemia Thin skin Thin vermilion border Prominent forehead Midface retrusion Narrow mouth Proptosis Malar flattening Dyspnea Conductive hearing impairment Hypertrophic cardiomyopathy Joint stiffness Microtia Hip dislocation Hypermetropia Narrow chest Hypodontia Flexion contracture Chest pain Short nose Nail dysplasia Joint hemorrhage Convex nasal ridge Macrocephaly Cyanosis Heart murmur Ecchymosis Spontaneous, recurrent epistaxis Abnormality of the cardiovascular system Myocardial infarction Skeletal muscle atrophy Epistaxis Cleft palate Multiple joint contractures Widely patent fontanelles and sutures Hypoplastic facial bones Joint dislocation Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Intermittent claudication Old-aged sensorineural hearing impairment Corneal arcus Sinus tachycardia Glucose intolerance Joint swelling Premature coronary artery atherosclerosis Absence of subcutaneous fat Reticulated skin pigmentation Scarring Aplastic clavicle Abnormal trabecular bone morphology Abnormality of the kidney Polydactyly Obesity Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Insulin-resistant diabetes mellitus at puberty Craniofacial disproportion Absence of pubertal development Carotid artery stenosis Narrow nasal tip Anosmia Respiratory distress Bilateral coxa valga Hip pain Narrow nasal ridge High pitched voice Thin ribs Thrombocytosis Alopecia of scalp Short clavicles Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Abnormal bleeding Absent eyelashes Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval Retinopathy Premature graying of hair Abnormal EKG Transient ischemic attack Arteriosclerosis Generalized osteoporosis Carcinoid tumor Bruising susceptibility Thin bony cortex Ivory epiphyses of the distal phalanges of the hand Aplasia/Hypoplasia of the earlobes Small face Lack of skin elasticity Fragile nails Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Precocious atherosclerosis Smooth philtrum Swelling of proximal interphalangeal joints Abnormal vertebral morphology Joint hyperflexibility Micromelia Short palm Short distal phalanx of finger Sensory neuropathy Short foot Waddling gait Limb undergrowth Bilateral sensorineural hearing impairment Lumbar hyperlordosis Type II diabetes mellitus Abnormality of the metaphysis Abnormality of epiphysis morphology Rhizomelia Disproportionate short-limb short stature Platyspondyly Flared metaphysis Hypoplasia of the odontoid process Spinal canal stenosis Metaphyseal dysplasia Disproportionate short stature Abnormality of the hip bone Limited elbow extension Bowing of the legs Short long bone Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Scaling skin Epiphyseal dysplasia Genu varum Genu valgum Joint laxity Upper limb undergrowth Abnormality of the anterior pituitary Telangiectasia Hepatitis Ascites Hepatic failure Recurrent infections Abnormality of endocrine pancreas physiology Abnormality of iron homeostasis Osteomalacia Portal hypertension Lethargy Muscle weakness Purpura Lymphopenia Neutropenia Pleural effusion Pericarditis Skeletal dysplasia Microvesicular hepatic steatosis Severe short stature Intellectual disability, mild Gait disturbance Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Abnormal glucose tolerance Hepatocellular carcinoma Alcoholism Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Insulin-resistant diabetes mellitus Genu recurvatum Cone-shaped epiphyses of the proximal phalanges of the hand Sparse scalp hair Cone-shaped epiphysis Deep philtrum Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Fine hair Progressive spastic paraplegia Microdontia Dental malocclusion Bulbous nose Paraplegia Spastic paraplegia Pectus carinatum Short finger Sparse lateral eyebrow Low-set, posteriorly rotated ears Flat capital femoral epiphysis Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Pseudohypoparathyroidism Spondylolisthesis Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Protruding ear Thin upper lip vermilion Delayed epiphyseal ossification Myelopathy Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Hamartomatous polyposis Carpal bone hypoplasia Ulnar deviation of the hand Cervical cord compression Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Multiple epiphyseal dysplasia Beaking of vertebral bodies Cervical instability Flared femoral metaphysis Pes planus Spatulate ribs Posteriorly rotated ears Recurrent respiratory infections Long philtrum Dysarthria Generalized hypotonia Small epiphyses of the phalanges of the hand Fragmented, irregular epiphyses Irregular carpal bones Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Shoulder pain



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