Hearing impairment, and Hyperhidrosis

Diseases related with Hearing impairment and Hyperhidrosis

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

Top matches:

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.

NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME Is also known as ectodermal dysplasia-short stature syndrome|short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Dysphagia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Other less relevant matches:

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

PARAGANGLIOMAS 3; PGL3 Is also known as glomus tumors, familial, 3

Related symptoms:

  • Hyperhidrosis
  • Tachycardia
  • Palpitations
  • Hoarse voice
  • Cranial nerve paralysis


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 3; PGL3

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.

PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME Is also known as palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome

Related symptoms:

  • Hearing impairment
  • Strabismus
  • Hypospadias
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

PARAGANGLIOMAS 1; PGL1 Is also known as paraganglioma, carotid body|glomus tumors, familial, 1|cbt1|glomus jugulare tumors|paragangliomas, familial, 1|chemodectomas|paragangliomas, familial nonchromaffin, 1|carotid body tumors|pgl|paragangliomata

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hyperhidrosis
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 1; PGL1

PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Hearing impairment and Hyperhidrosis

Symptoms // Phenotype % cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Extraadrenal pheochromocytoma Uncommon - Between 30% and 50% cases
Hypertension associated with pheochromocytoma Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Tachycardia Palpitations Cranial nerve paralysis Paraganglioma Recurrent paroxysmal headache Pulsatile tinnitus Episodic paroxysmal anxiety Adrenal pheochromocytoma Chemodectoma Glomus jugular tumor Hyperkeratosis

Rare Symptoms - Less than 30% cases

Sensory impairment Muscular hypotonia Decreased number of peripheral myelinated nerve fibers Intellectual disability Global developmental delay Pheochromocytoma Hypertension Strabismus Feeding difficulties Elevated circulating catecholamine level Hypohidrosis Loss of voice Neoplasm Hoarse voice Muscle weakness Vocal cord paralysis Carcinoma Abnormal autonomic nervous system physiology Short stature Hyporeflexia Nail dystrophy Headache Dysphagia Seizures Mental deterioration Ataxia Fever Peripheral neuropathy Cerebral atrophy Paresthesia Postural instability Dysphonia Emphysema Neoplasm of the lung Neurofibromas Chronic obstructive pulmonary disease Leiomyosarcoma Hypoplastic right heart Vagal paraganglioma Glomus tympanicum paraganglioma Conductive hearing impairment Abnormality of the dentition Dyspnea Urinary incontinence Hypodontia Hepatomegaly Intellectual disability, mild Areflexia Elevated hepatic transaminase Hepatic failure Recurrent fractures Anosmia Gastric leiomyosarcoma Steppage gait Anhidrosis Bowel incontinence Hyposmia Recurrent corneal erosions Pain insensitivity Acetabular dysplasia Painless fractures due to injury Pulmonary chondroma Renal cell carcinoma Congestive heart failure Shock Unsteady gait Lactic acidosis Metabolic acidosis Aciduria Abnormality of the skin Progressive neurologic deterioration Hypophosphatemia Muscular hypotonia of the trunk Muscle fibrillation Severe lactic acidosis Methylmalonic aciduria Necrotizing encephalopathy Poor motor coordination Episodic metabolic acidosis Renal aminoaciduria Severe global developmental delay Abnormality of the nervous system Anxiety Skeletal muscle atrophy Neuroblastoma Orthokeratotic hyperkeratosis Gastrointestinal stroma tumor Paraganglioma of head and neck Elevated urinary catecholamines Growth delay Failure to thrive Respiratory insufficiency Hypoglycemia Cardiomyopathy Intellectual disability, severe Dystonia Obesity Encephalopathy Respiratory failure Acidosis Laryngeal carcinoma Squamous cell carcinoma of the skin Premature loss of permanent teeth Cataplexy Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Delirium Narcolepsy Onion bulb formation Nystagmus Spasticity Dysesthesia Delayed speech and language development Gait disturbance Hypotension Polydipsia Delusions Neurofibrillary tangles Adrenal insufficiency Hallucinations Sensory neuropathy Neurodegeneration Gliosis Irritability Memory impairment Neuronal loss in central nervous system Progressive hearing impairment Axonal loss Apathy Personality changes Impulsivity Osteomyelitis Global brain atrophy Severe hearing impairment Dementia Nasal speech Orthostatic hypotension Sclerodactyly Hypercholesterolemia Palmoplantar keratoderma Decreased testicular size Ambiguous genitalia Small nail Hypertriglyceridemia Gynecomastia Palmoplantar hyperkeratosis Asthma Premature ovarian insufficiency Clitoral hypertrophy Squamous cell carcinoma Sex reversal Distal sensory impairment Ovotestis Palmoplantar hyperhidrosis Corneal opacity Hypospadias Achalasia Pruritus Alacrima Anisocoria Urticaria Conjunctivitis Dehydration Nausea and vomiting Erythema Epidermal acanthosis Arthritis Myalgia Arthralgia Abdominal pain Fatigue Anonychia Hypoplasia of dental enamel Intermittent hyperpnea at rest


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