Edema, and Vertigo

Diseases related with Edema and Vertigo

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

Top matches:

Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema
  • Rod-cone dystrophy
  • Vertigo


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

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

Other less relevant matches:

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

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

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Low match LASSA FEVER

Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.

LASSA FEVER Is also known as lassa hemorrhagic fever|lf

Related symptoms:

  • Seizures
  • Hearing impairment
  • Fever
  • Fatigue
  • Diarrhea


SOURCES: MESH ORPHANET MENDELIAN

More info about LASSA FEVER

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

Top 5 symptoms//phenotypes associated to Edema and Vertigo

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Tinnitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Hypertension Hepatomegaly Hypotension Telangiectasia Peripheral neuropathy Lymphedema Vomiting Pain Neoplasm

Rare Symptoms - Less than 30% cases

Capillary hemangioma Lethargy Nausea and vomiting Lymphadenopathy Recurrent respiratory infections Cough Cirrhosis Chest pain Nocturia Cardiomegaly Leukopenia Pulmonary capillary hemangiomatosis Myalgia Muscle weakness Orthostatic hypotension Hyperkeratosis Dry skin Subcutaneous nodule Dehydration Telangiectasia of the skin Blurred vision Weight loss Syncope Visual loss Muscular hypotonia Thrombocytopenia Blindness Nystagmus Confusion Bilateral sensorineural hearing impairment Coma Intellectual disability, mild Developmental regression Intellectual disability Migraine Global developmental delay Paresthesia Headache Tapered finger Hematuria Neurological speech impairment Hemolytic anemia Bruising susceptibility Leukemia Scarring Pallor Webbed neck Exocrine pancreatic insufficiency Hypotelorism Pancytopenia Retinal neovascularization Intracranial hemorrhage Myelodysplasia Chronic otitis media Leukocytosis Adrenal pheochromocytoma Posterior uveitis Prolonged bleeding time Cellulitis Myeloid leukemia Acute myeloid leukemia Bone marrow hypocellularity Immunodeficiency Respiratory failure Retinal capillary hemangioma Secondary hyperaldosteronism Spinal hemangioblastoma Hemangioblastoma Gastrointestinal hemorrhage Spontaneous abortion Conjunctivitis Increased intracranial pressure Pleural effusion Palpebral edema Cerebellar hemangioblastoma Cardiorespiratory arrest Recurrent pharyngitis Recurrent infections Menometrorrhagia Chemosis Papillary cystadenoma of the epididymis Anemia Epididymal cyst Epicanthus Respiratory insufficiency Cerebellar atrophy Splenomegaly Syndactyly Choroidal neovascularization Acute leukemia Abnormality of the optic nerve Hypercoagulability Neoplasm of the pancreas Pollakisuria Hypertonic dehydration Abnormality of the anterior pituitary Neoplasm of the endocrine system Germinoma Hydrocephalus Facial paralysis Dilatation Renal neoplasm Carcinoma Abnormality of the liver Hyperaldosteronism Multiple renal cysts Histiocytosis Papilledema Retinal detachment Renal cyst Nevus Progressive visual loss Hemangioma Hypokalemia Hypercalcemia Neurofibromas Hamartoma Polycythemia Subarachnoid hemorrhage Central diabetes insipidus Enuresis Verrucae Abnormality of metabolism/homeostasis Renal cell carcinoma Myeloproliferative disorder Granulocytopenia Carcinoid tumor Erysipelas Macronodular cirrhosis Abnormal neutrophil count Paraganglioma Growth delay Hypertelorism Short nose Long philtrum Pancreatic cysts Diabetes insipidus Constipation Osteoporosis Diabetes mellitus Osteopenia Irritability Autoimmunity Wide nose Skin rash Pheochromocytoma Growth hormone deficiency Polydipsia Polyuria Gliosis Generalized amyotrophy Arthralgia Ventricular hypertrophy Borderline personality disorder Migraine without aura Personality disorder Transient unilateral blurring of vision Respiratory distress Congestive heart failure Dyspnea Ascites Sudden cardiac death Cyanosis Pulmonary arterial hypertension Epistaxis Palpitations Migraine with aura Abnormal lung morphology Hoarse voice Scleroderma Hemoptysis Acrocyanosis Right ventricular hypertrophy Edema of the lower limbs Abnormal thrombosis Right ventricular failure Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Phonophobia Episodic ataxia Elevated right atrial pressure Autistic behavior Rod-cone dystrophy Retinal degeneration Vestibular dysfunction Ataxia Delayed speech and language development Dysarthria Tremor Behavioral abnormality Depressivity Gait ataxia Photophobia Intellectual disability, moderate Stroke Drowsiness Dysmetria Nausea Abnormal cerebellum morphology Apraxia Intention tremor Hemiparesis Diplopia Hemiplegia Loss of consciousness Aphasia Dysphasia Severe hearing impairment Restlessness Hemangiomatosis Arterial intimal fibrosis Abdominal pain Ptosis Intellectual disability, severe Myoclonus Autism Hypertrophic cardiomyopathy Abnormal pyramidal sign Sensory neuropathy Abnormality of extrapyramidal motor function Cerebral visual impairment Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Abnormality of brainstem morphology Generalized hypotonia High palate Spasticity Hypoglycemia Abnormality of the nervous system Abnormal autonomic nervous system physiology Epiphora Amyloidosis Neonatal hypoglycemia Hypothermia Recurrent hypoglycemia Multiple myeloma Intermittent hypothermia Retrograde ejaculation Diarrhea Optic atrophy Strabismus Pulmonary arterial medial hypertrophy Thick vermilion border Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Cognitive impairment Depressed nasal bridge Cerebral atrophy Coarse facial features Abnormality of the eye Distal muscle weakness Papule Abnormality of the cerebral white matter Peripheral axonal neuropathy Distal sensory impairment Polyneuropathy Telangiectasia of the oral mucosa Thick lower lip vermilion Aminoaciduria Opacification of the corneal stroma Axonal degeneration Abnormality of the periventricular white matter 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 Neoplasm of the ear


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