Melanoma, and Progressive hearing impairment

Diseases related with Melanoma and Progressive hearing impairment

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

Top matches:

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

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

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Other less relevant matches:

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

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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

Low match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

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

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

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

Top 5 symptoms//phenotypes associated to Melanoma and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Spasticity Seizures Cutaneous photosensitivity Dermal atrophy Muscle weakness Optic atrophy Microphthalmia Confusion Retinopathy Poikiloderma Choreoathetosis Visual loss Short stature Abnormality of the nervous system Neoplasm Global developmental delay Cerebellar atrophy Blindness Mental deterioration

Rare Symptoms - Less than 30% cases

Visual impairment Pain Retinal degeneration Photophobia Hyporeflexia Corneal opacity Neoplasm of the skin Oral-pharyngeal dysphagia Severe short stature Migraine Telangiectasia Full cheeks Intellectual disability, severe Carcinoma Conjunctivitis Vertigo Anteverted nares Ectropion Keratitis Entropion Defective DNA repair after ultraviolet radiation damage Cachexia Nystagmus Hyperreflexia Bilateral sensorineural hearing impairment Abnormality of the retinal vasculature Basal cell carcinoma Malar flattening Sensory neuropathy Paralysis Irritability Developmental regression Proximal muscle weakness Myoclonus Dementia Growth delay Psychosis Behavioral abnormality Hypertonia Failure to thrive Gait disturbance Skeletal muscle atrophy Dysarthria Peripheral neuropathy Generalized hypotonia Generalized muscle weakness Deeply set eye Thin vermilion border Progressive muscle weakness Squamous cell carcinoma of the skin Hallucinations Immunodeficiency Hypertriglyceridemia Scoliosis Ventricular hypertrophy Epistaxis Muscular hypotonia Cryptorchidism Anxiety Skeletal myopathy Diabetes mellitus Corneal neovascularization Cerebral cortical atrophy Intellectual disability, mild Hepatic failure Autism Distal amyotrophy Cardiomegaly Otitis media Macrotia Glaucoma Keratoconjunctivitis sicca Hepatic fibrosis Elevated hepatic transaminase Periportal fibrosis Recurrent corneal erosions Ketotic hypoglycemia Cirrhosis Scarring Abnormality of the liver Hypertrophic cardiomyopathy Myalgia Ketosis Broad nasal tip Micronodular cirrhosis Hypoglycemia Thin upper lip vermilion Recurrent sinusitis Elevated serum creatine phosphokinase Hyperlipidemia Sinusitis Decreased liver function Obesity Midface retrusion EEG abnormality Narrow nasal bridge Aggressive behavior Ventriculomegaly Basal ganglia calcification Freckling Decreased nerve conduction velocity Abnormality of the cardiovascular system Pigmentary retinopathy Hypogonadism Vascular neoplasm Cutaneous melanoma Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Progeroid facial appearance Abnormal CNS myelination Abnormal vitreous humor morphology Abnormality of amino acid metabolism Olivopontocerebellar atrophy Acute lymphoblastic leukemia Progressive neurologic deterioration Leukemia Areflexia Numerous pigmented freckles Arteriosclerosis Increased cellular sensitivity to UV light Demyelinating peripheral neuropathy Prematurely aged appearance Urticaria Diplopia Dry skin Skin rash Hydrocephalus Corneal degeneration Posterior synechiae of the anterior chamber Abnormality of the eye Clonus Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Ectopia lentis Intellectual disability, progressive Opacification of the corneal stroma Stereotypy Abnormality of immune system physiology Intellectual disability, profound Hypotelorism Sleep disturbance Retinal detachment Delayed puberty Attention deficit hyperactivity disorder Protruding ear Myopathy Severe vision loss Phthisis bulbi Retinoblastoma Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Retinal fold Venous insufficiency Hypoplasia of the iris Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the helix Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Congestive heart failure Astrocytoma Cardiomyopathy Psychotic episodes Zebra bodies GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Decerebrate rigidity Dilatation Mood changes Paranoia Psychomotor deterioration Exaggerated startle response Torsion dystonia Action tremor Respiratory insufficiency Abnormality of metabolism/homeostasis Loss of speech Alkalosis Compensated hypothyroidism Hypoplasia of the cochlea Cochlear malformation Abnormality of the inner ear Metabolic alkalosis Thyroid carcinoma Tracheal stenosis Hypothyroidism Hyperparathyroidism Abnormality of the thyroid gland Vestibular dysfunction Congenital sensorineural hearing impairment Goiter Nephropathy Neurological speech impairment Proximal amyotrophy Muscle fibrillation Euthyroid goiter Rigidity Neurodegeneration Falls Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Pallor Respiratory failure Abnormal cerebellum morphology Rod-cone dystrophy Pes cavus Depressivity Dystonia Dysphagia Tremor Muscle cramps Urinary incontinence Amyotrophic lateral sclerosis Hyperkinesis Personality changes Spinal muscular atrophy Apathy Incoordination Slurred speech Poor head control Hypercholesterolemia Memory impairment EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Fasciculations Involuntary movements Clumsiness Unilateral deafness Enlarged vestibular aqueduct Hepatomegaly Hamartoma Schwannoma Dysgraphia Meningioma Posterior subcapsular cataract Subcapsular cataract Axonal loss Multiple cafe-au-lait spots Lisch nodules Neurofibromas Tinnitus Increased intracranial pressure Sensorimotor neuropathy Cafe-au-lait spot Subcutaneous nodule Neoplasm of the central nervous system Cortical cataract Papule Bilateral vestibular Schwannoma Depressed nasal bridge Capsular cataract Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Occasional neurofibromas Peripheral Schwannoma Mononeuropathy Epiretinal membrane Retinal hamartoma Neuroma Vestibular Schwannoma Decreased corneal sensation Spinal cord tumor Pseudoepiphyses of the metacarpals Ependymoma Progressive visual loss Facial palsy Thyroid nodule Delayed eruption of teeth Abnormality of dental enamel Gingival overgrowth Hypoplasia of dental enamel Ectodermal dysplasia Hypodontia Microcornea Iris coloboma Increased number of teeth Long face Carious teeth Coloboma Long philtrum Abnormality of the dentition Micrognathia Progressive sensorineural hearing impairment Ankylosis Reduced visual acuity Agenesis of premolar Headache Abnormality of the dental pulp Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Otitis media with effusion Lens coloboma Taurodontia Odontoma High-frequency sensorineural hearing impairment Pulp stones Macrodontia High-frequency hearing impairment Retinal coloboma Periodontitis Gonadal hypoplasia


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