Edema, and Telangiectasia

Diseases related with Edema and Telangiectasia

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


Top matches:

Low match BURULI ULCER, SUSCEPTIBILITY TO


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

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match UV-SENSITIVE SYNDROME 3; UVSS3


UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Edema
  • Abnormality of the nervous system
  • Erythema
  • Dry skin


SOURCES: OMIM MENDELIAN

More info about UV-SENSITIVE SYNDROME 3; UVSS3

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Other less relevant matches:

Low match COATS DISEASE


Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

COATS DISEASE Is also known as retinal telangiectasis|congenital retinal telangiectasia|leber miliary aneurysm

Related symptoms:

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COATS DISEASE

Low match ATROPHODERMA VERMICULATA


Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).

ATROPHODERMA VERMICULATA Is also known as atrophodermia reticulata symmetrica faciei|folliculitis ulerythematosa reticulate|honeycomb atrophy|folliculitis ulerythematosa reticulata|atrophodermia vermiculata

Related symptoms:

  • Edema
  • Dilatation
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATROPHODERMA VERMICULATA

Low match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME


Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME Is also known as hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Related symptoms:

  • Hypertension
  • Respiratory distress
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME

Low match PULMONARY HYPERTENSION, PRIMARY, 1; PPH1


Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Top 5 symptoms//phenotypes associated to Edema and Telangiectasia

Symptoms // Phenotype % cases
Erythema Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
Vertigo Uncommon - Between 30% and 50% cases
Cutaneous photosensitivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Lymphedema

Rare Symptoms - Less than 30% cases


Cardiomegaly Telangiectasia of the skin Hepatomegaly Muscle weakness Hearing impairment Peripheral neuropathy Sparse scalp hair Ascites Sparse hair Hyperhidrosis Respiratory distress Hypertension Papule Skin rash Pain Abnormality of the dentition Cirrhosis Dry skin Neoplasm Cataract Strabismus Abnormality of skin pigmentation Aminoaciduria Opacification of the corneal stroma Tinnitus Axonal degeneration Alopecia of scalp Abnormality of the periventricular white matter Subcutaneous nodule Motor polyneuropathy Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Osteosarcoma Bilateral sensorineural hearing impairment Thick lower lip vermilion Cerebral atrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Lamellar cataract Sensorineural hearing impairment Cognitive impairment Depressed nasal bridge Acantholysis Intellectual disability, mild Concave nasal ridge Seizures Coarse facial features Abnormality of the eye Distal muscle weakness Abnormality of the cerebral white matter Peripheral axonal neuropathy Distal sensory impairment Thick vermilion border Poikiloderma Polyneuropathy Telangiectasia of the oral mucosa Nystagmus Global developmental delay Visual impairment Intellectual disability Melanoma Overgrowth Short stature Abnormal blistering of the skin Hypopigmentation of the skin Growth delay Feeding difficulties Frontal bossing Generalized amyotrophy Vomiting Diarrhea Prominent forehead Osteoporosis Hypogonadism Osteopenia Carcinoma Postnatal growth retardation Abnormality of brainstem morphology Hemiplegia/hemiparesis Leukemia Basal cell carcinoma Muscular hypotonia Spasticity Optic atrophy Intellectual disability, severe Severe vision loss Myoclonus Striae distensae Autism Hypertrophic cardiomyopathy Aplasia/Hypoplasia of the cerebellum Squamous cell carcinoma Arterial intimal fibrosis Erythroderma Developmental regression Abnormal pyramidal sign Paresthesia Sensory neuropathy Abnormality of extrapyramidal motor function Cerebral visual impairment Pulmonary arterial medial hypertrophy Hemoptysis Elevated right atrial pressure Abnormality of the cardiovascular system Phthisis bulbi Retinal telangiectasia Exudative retinal detachment Exudative retinopathy Rubeosis iridis Dilatation Scarring Falls Epidermal acanthosis Abnormal macular morphology Acne Milia Neurofibromas Follicular hyperkeratosis Leukonychia Folliculitis Perifollicular fibrosis Atrophodermia vermiculata Leukocoria Aplasia/Hypoplasia of the iris Nevus Increased cellular sensitivity to UV light Pruritus Decreased liver function Cholelithiasis Microcytic anemia Abnormality of the heme biosynthetic pathway Abnormality of the nervous system Neoplasm of the skin Freckling Pigmentation anomalies of sun-exposed skin Abnormal anterior chamber morphology Visual loss Glaucoma Retinopathy Retinal detachment Progressive visual loss Uveitis Abnormality of the vasculature Macular edema Abnormality of the retinal vasculature Hypotrichosis Thin skin Pulmonary capillary hemangiomatosis Scleroderma Hypotension Cyanosis Pulmonary arterial hypertension Epistaxis Ventricular hypertrophy Palpitations Abnormal lung morphology Hoarse voice Acrocyanosis Chest pain Capillary hemangioma Right ventricular hypertrophy Edema of the lower limbs Abnormal thrombosis Right ventricular failure Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Sudden cardiac death Cough Hydrops fetalis Hydrocele testis Abnormality of the nail Dermal atrophy Pleural effusion Absent eyebrow Cutis marmorata Sparse body hair Palpebral edema Absent eyelashes Nonimmune hydrops fetalis Dyspnea Alopecia totalis Toenail dysplasia Abnormality of the lymphatic system Predominantly lower limb lymphedema Palmar telangiectasia Plantar telangiectasia Fatigue Congestive heart failure Recurrent respiratory infections Acrokeratosis



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