Edema, and Increased bone mineral density

Diseases related with Edema and Increased bone mineral density

In the following list you will find some of the most common rare diseases related to Edema and Increased bone mineral density that can help you solving undiagnosed cases.

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Other less relevant matches:

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Related symptoms:

  • Neoplasm
  • Fatigue
  • Edema
  • Osteoporosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ANALBUMINEMIA

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

Top 5 symptoms//phenotypes associated to Edema and Increased bone mineral density

Symptoms // Phenotype % cases
Corneal dystrophy Uncommon - Between 30% and 50% cases
Lymphedema Uncommon - Between 30% and 50% cases
Osteopetrosis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hearing impairment Rare - less than 30% cases

Other less frequent symptoms

Patients with Edema and Increased bone mineral density. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Distal renal tubular acidosis Rickets Nephrolithiasis Bilateral sensorineural hearing impairment Dehydration Metabolic acidosis Acidosis Vomiting Sensorineural hearing impairment Nephrocalcinosis Ectodermal dysplasia Recurrent infections Immunodeficiency Reduced visual acuity Fatigue Hemangioma Dermal atrophy Growth abnormality Cranial nerve paralysis Scleroderma Bone pain Nevus Abnormality of the foot Joint stiffness Arthritis Hyperostosis Joint swelling Skeletal dysplasia Subcutaneous calcification Osteomalacia Hypokalemia Renal insufficiency Growth delay Ectopic ossification in muscle tissue Osteopoikilosis Peripheral arteriovenous fistula Abnormality of the vasculature Upper limb asymmetry Chronic pain Prominent superficial veins Lack of skin elasticity Lower limb asymmetry Atypical scarring of skin Arthralgia Skeletal muscle atrophy Dilatation Conical tooth Carcinoma Small for gestational age Hypotension Hyperlipidemia Atherosclerosis Hypercholesterolemia Hypoalbuminemia Lipodystrophy Hypercoagulability Asthenia Intellectual disability Neoplasm Hypohidrotic ectodermal dysplasia Recurrent bacterial infections Abnormality of the skeletal system Delayed eruption of teeth Paralysis Stage 5 chronic kidney disease Anhidrotic ectodermal dysplasia Cerebral calcification Visual impairment Fever Renal tubular acidosis Renal potassium wasting Pain Flexion contracture Hypertension Osteoporosis Hyperchloremic metabolic acidosis


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