Melanoma, and Vertigo

Diseases related with Melanoma and Vertigo

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


Top matches:

Low match AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES


Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe EpilepsySee also ETL2 (OMIM ), which maps to chromosome 12q; ETL3 (OMIM ), which maps to chromosome 4q; ETL4 (OMIM ), which maps to chromosome 9q; ETL5 (OMIM ), caused by mutation in the CPA6 gene (OMIM ) on chromosome 8q13; ETL6 (OMIM ), which maps to chromosome 3q25-q26; ETL7 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; and ETL8 (OMIM ), caused by mutation in the GAL gene (OMIM ) on chromosome 11q13.

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES Is also known as partial epilepsy with auditory aura|partial epilepsy with auditory features|adlte|adeaf|autosomal dominant lateral temporal lobe epilepsy|adpeaf|epilepsy, lateral temporal lobe, autosomal dominant|epilepsy, partial, with auditory features

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Vertigo
  • Focal-onset seizure
  • Febrile seizures


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

Low match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD


Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly|xph, formerly|xp4 xeroderma pigmentosum viii, formerly|xpdc|xp, group d|xp, group h, formerly|xeroderma pigmentosum iv

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

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Other less relevant matches:

Low match NEUROFIBROMATOSIS TYPE 2


Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Low match DE SANCTIS-CACCHIONE SYNDROME


A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Low match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Top 5 symptoms//phenotypes associated to Melanoma and Vertigo

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm of the skin Cataract Microcephaly Cutaneous photosensitivity Telangiectasia Dermal atrophy Corneal opacity Carcinoma Papule Neoplasm Pain Severe short stature

Rare Symptoms - Less than 30% cases


Multiple cafe-au-lait spots Choreoathetosis Fatigue Congestive heart failure Conjunctivitis Headache Chest pain Keratitis Mental deterioration Abnormality of the nervous system Photophobia Hyporeflexia Microphthalmia Hamartoma Ectropion Entropion Poikiloderma Migraine Increased intracranial pressure Meningioma Astrocytoma Dysgraphia Neoplasm of the central nervous system Subcutaneous nodule Pseudoepiphyses of the metacarpals Tinnitus Occasional neurofibromas Cerebellar atrophy Facial palsy Gait disturbance Visual impairment Defective DNA repair after ultraviolet radiation damage Sensory neuropathy Abnormality of the retinal vasculature Spasticity Palpitations Mutism Progressive hearing impairment Joint laxity Erythema Positive regitine blocking test Sparse hair Pruritus Nail dystrophy Hypotrichosis Carious teeth Ichthyosis Palmoplantar keratoderma Elevated urinary norepinephrine Hypodontia Osteoporosis Ectodermal dysplasia Elevated urinary dopamine Nail dysplasia Epidermal acanthosis Inflammatory abnormality of the skin Thickened skin Skin ulcer Abnormality of the fingernails Opacification of the corneal stroma Osteolysis Cutis laxa Hyperkeratosis Alopecia Hyperhidrosis Neuroma Neurofibromas Axonal loss Subcapsular cataract Posterior subcapsular cataract Schwannoma Lisch nodules Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Decreased corneal sensation Vestibular Schwannoma Retinal hamartoma Squamous cell carcinoma Mononeuropathy Bilateral vestibular Schwannoma Peripheral Schwannoma Unilateral vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Capsular cataract Global developmental delay Growth delay Paroxysmal vertigo Flexion contracture Abnormality of the dentition Delayed skeletal maturation Anhidrosis Parakeratosis Curly hair Agenesis of premolar Foot pain Elevated calcitonin Recurrent paroxysmal headache Cranial nerve compression Sinus tachycardia Paraganglioma Flushing Vocal cord paralysis Episodic abdominal pain Aniridia Ainhum Renal cell carcinoma Cerebral hemorrhage Pulsatile tinnitus Glomerulosclerosis Hypercalcemia Dysphonia Hematuria Nausea Pallor Proteinuria Conductive hearing impairment Weight loss Tremor Anal fissure Skin fissure Adrenal pheochromocytoma Episodic paroxysmal anxiety Circumungual hyperkeratosis Paraganglioma of head and neck Neoplasm of the lung Ankylosis Oral leukoplakia Pili torti Hypergranulosis Generalized osteoporosis Subungual hyperkeratosis Amniotic constriction ring Trichorrhexis nodosa Abnormality of the tongue Alopecia universalis Abnormal cornea morphology Elevated urinary epinephrine Hypertensive retinopathy Plantar hyperkeratosis Abnormal oral mucosa morphology Abnormality of the gingiva Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Retinal capillary hemangioma Autoamputation Extraadrenal pheochromocytoma Episodic hyperhidrosis Hypertension associated with pheochromocytoma Panic attack Sensorimotor neuropathy Oral-pharyngeal dysphagia Hypoalbuminemia Cafe-au-lait spot Corneal neovascularization Thyroid carcinoma Metabolic alkalosis Abnormality of the inner ear Cochlear malformation Hypoplasia of the cochlea Compensated hypothyroidism Unilateral deafness Euthyroid goiter Enlarged vestibular aqueduct Thyroid nodule Keratoconjunctivitis sicca Cranial nerve paralysis Tracheal stenosis Benign neoplasm of the central nervous system Short stature Hyperreflexia Optic atrophy Ventriculomegaly Intellectual disability, severe Hypogonadism Retinopathy Retinal degeneration Pigmentary retinopathy Abnormality of the cardiovascular system Decreased nerve conduction velocity Alkalosis Hyperparathyroidism Freckling Focal aware seizure Focal-onset seizure Febrile seizures Generalized-onset seizure Hallucinations Focal impaired awareness seizure Aphasia Visual hallucinations Glioma Generalized tonic-clonic seizures with focal onset Auditory hallucinations Focal sensory seizure Deja vu Abnormality of the thyroid gland Focal sensory auditory seizure Somatosensory auras Respiratory insufficiency Dilatation Abnormality of metabolism/homeostasis Hypothyroidism Neurological speech impairment Nephropathy Bilateral sensorineural hearing impairment Goiter Congenital sensorineural hearing impairment Vestibular dysfunction Basal cell carcinoma Basal ganglia calcification Progressive visual loss Hematemesis Portal hypertension Clubbing Colon cancer Polycythemia Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Melena Hypokalemia Intussusception Multiple gastric polyps Duodenal adenocarcinoma Adenocarcinoma of the colon Hepatic vascular malformations Muscle weakness Peripheral neuropathy Blindness Visual loss Reduced visual acuity Paralysis Generalized muscle weakness Generalized tonic-clonic seizures Diplopia Progeroid facial appearance Anemia Squamous cell carcinoma of the skin Cutaneous melanoma Abnormal CNS myelination Increased cellular sensitivity to UV light Areflexia Leukemia Progressive neurologic deterioration Acute lymphoblastic leukemia Olivopontocerebellar atrophy Gonadal hypoplasia Failure to thrive Cryptorchidism Hypertension Epistaxis Macrocephaly Respiratory distress Diarrhea Hernia Abdominal pain Dyspnea Umbilical hernia Jaundice Stroke Cough Gastrointestinal hemorrhage Cyanosis Arachnoid hemangiomatosis



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