Arthritis, and Telangiectasia

Diseases related with Arthritis and Telangiectasia

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


Top matches:

Low match COMPLEMENT COMPONENT 7 DEFICIENCY; C7D


COMPLEMENT COMPONENT 7 DEFICIENCY; C7D Is also known as c7 deficiency

Related symptoms:

  • Fever
  • Arthritis
  • Telangiectasia
  • Meningitis
  • Vasculitis


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

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Other less relevant matches:

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

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 RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34


DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by Nakanishi et al., 2017).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Fever
  • Edema
  • Headache


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34

Top 5 symptoms//phenotypes associated to Arthritis and Telangiectasia

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Telangiectasia of the skin Pain Diarrhea Weight loss Short stature Skin ulcer Hepatomegaly Arthralgia Hearing impairment Ataxia

Rare Symptoms - Less than 30% cases


Pneumonia Failure to thrive Alopecia Diabetes mellitus Retinopathy Abdominal pain Recurrent pneumonia Abnormal lung morphology Osteolysis Recurrent infections Rheumatoid arthritis Hepatitis Otitis media Splenomegaly Elevated hepatic transaminase Encephalitis Immunodeficiency Dysphagia Ascites Congestive heart failure Cirrhosis Gastroesophageal reflux Skin rash Autoimmunity Malabsorption Abnormality of the liver Pulmonary fibrosis Scleroderma Xerostomia Headache Bronchitis Pulmonary arterial hypertension Renal insufficiency Hypertension Gastrointestinal hemorrhage Sclerodactyly Pyoderma Dilatation Conjunctivitis Arrhythmia Hepatocellular carcinoma Meningitis Raynaud phenomenon Elevated transferrin saturation Recurrent cutaneous abscess formation Lymph node hypoplasia Neoplasm of the liver Restrictive cardiomyopathy Testicular atrophy Thymoma Alcoholism Abnormal glucose tolerance Aceruloplasminemia Global developmental delay Microvesicular hepatic steatosis Increased serum iron Acute hepatic failure Constrictive pericarditis Septic arthritis Prostatitis Epididymitis Abnormality of the tonsils Cholangiocarcinoma Decreased antibody level in blood Enteroviral dermatomyositis syndrome Hypogonadotrophic hypogonadism Urticaria Carcinoma Dilated cardiomyopathy Hepatic failure Hepatic steatosis Amenorrhea Progressive hearing impairment Cardiomegaly Hyperpigmentation of the skin Hepatic fibrosis Insulin resistance Azoospermia Increased reactive oxygen species production Pleural effusion Impotence Abnormal joint morphology Arthropathy Osteomalacia Pericarditis Migraine Lymphadenopathy Increased serum ferritin Edema Microcephaly Enteroviral hepatitis Myelopathy Abnormality of the lymphatic system Intraventricular hemorrhage Mild global developmental delay Sinusitis Recurrent viral infections Chronic diarrhea Recurrent urinary tract infections Demyelinating peripheral neuropathy IgM deficiency Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Increased sensitivity to ionizing radiation Chronic sinusitis Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Delayed speech and language development Myopathy Thrombocytopenia Depressivity Encephalopathy Rod-cone dystrophy Dementia Neutropenia Lymphopenia IgG deficiency Abnormal facial shape Chronic otitis media Sepsis Gait disturbance Cor pulmonale Agammaglobulinemia Glossoptosis Cellulitis Osteomyelitis Respiratory failure Erythema Abnormality of the cerebral white matter Dry skin Recurrent skin infections Episodic fever Hypopigmented skin patches Specific learning disability Clumsiness Recurrent bacterial infections Scaling skin Emotional lability Restrictive ventilatory defect Interstitial pulmonary abnormality Recurrent sinusitis IgA deficiency Hypocalcemia Osteopenia Cholestasis Hypogonadism Hematochezia Abnormality of extrapyramidal motor function Epistaxis Hemiparesis Mitral regurgitation Hemangioma Aortic aneurysm Clubbing Colon cancer Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Arteriovenous malformation Joint hypermobility Cavernous hemangioma Hamartomatous polyposis Cerebral arteriovenous malformation Gastrointestinal carcinoma Pulmonary arteriovenous malformation Hepatic arteriovenous malformation Intrapulmonary shunt Juvenile gastrointestinal polyposis Intellectual disability Seizures Scoliosis Kyphosis Mitral valve prolapse Stroke Conductive hearing impairment Lactic acidosis Vasculitis Complement deficiency Vasculitis in the skin Subcutaneous calcification Recurrent meningococcal disease Recurrent meningitis C8 deficiency Pyoderma gangrenosum Hypoglycemia Proteinuria Delayed puberty Hematuria Visual loss Metabolic acidosis Hyperlipidemia Focal segmental glomerulosclerosis Gout Xanthomatosis Xanthelasma Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Spider hemangioma Ketonemia Ventriculomegaly Hyperkeratosis Pallor Osteoporosis Keratoconjunctivitis sicca Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Respiratory insufficiency Jaundice Myalgia Pruritus Hyperbilirubinemia Elevated alkaline phosphatase Steatorrhea Elevated erythrocyte sedimentation rate Irregular hyperpigmentation Dyspareunia Antinuclear antibody positivity Calcinosis Esophageal varix Biliary cirrhosis Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Lip telangiectasia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Cardiomyopathy Decreased urine output Oliguria Abnormality of skin pigmentation Gingival fibromatosis Delayed eruption of teeth Full cheeks Pigmentary retinopathy Optic disc pallor Hypertrichosis Decreased body weight Abnormality of retinal pigmentation Generalized hirsutism Narrow palate Abnormality of dental enamel Juvenile rheumatoid arthritis Abnormal anterior chamber morphology Osteolytic defects of the phalanges of the hand Angiokeratoma Axenfeld anomaly Enlarged labia minora Muscle weakness Flexion contracture Vomiting Constipation Dyspnea Carious teeth Nausea and vomiting Abnormality of the skin Pulmonary infiltrates Cervical lymphadenopathy



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