Melanoma, and Ophthalmoplegia

Diseases related with Melanoma and Ophthalmoplegia

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


Top matches:

Low match TAY-SACHS DISEASE; TSD


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

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

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Other less relevant matches:

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

Low match SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

Low match MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME


MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Low match OCULOCUTANEOUS ALBINISM TYPE 4


Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

OCULOCUTANEOUS ALBINISM TYPE 4 Is also known as oca4|oculocutaneous albinism, type iv

Related symptoms:

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 4

Low match OCULOCUTANEOUS ALBINISM TYPE 1B


Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.

OCULOCUTANEOUS ALBINISM TYPE 1B Is also known as platinum oculocutaneous albinism|oca1b|yellow oculocutaneous albinism|oculocutaneous albinism, amish type

Related symptoms:

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Photophobia
  • Hypopigmentation of the skin


SOURCES: ORPHANET MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 1B

Low match OCULOCUTANEOUS ALBINISM TYPE 2


Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.

OCULOCUTANEOUS ALBINISM TYPE 2 Is also known as oca2|oculocutaneous albinism, type ii|oculocutaneous albinism, tyrosinase-positive|albinism ii

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 2

Top 5 symptoms//phenotypes associated to Melanoma and Ophthalmoplegia

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Abnormality of the optic nerve Uncommon - Between 30% and 50% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Photophobia Hypopigmentation of the skin Albinism Basal cell carcinoma Hypopigmentation of hair Iris hypopigmentation Hypoplasia of the fovea Strabismus Squamous cell carcinoma of the skin

Rare Symptoms - Less than 30% cases


Hypopigmentation of the fundus Generalized hypopigmentation Blue irides Melanocytic nevus Freckling Thickened skin Reduced visual acuity Loss of speech Paranoia Psychomotor deterioration Exaggerated startle response Torsion dystonia Action tremor Proximal amyotrophy Oral-pharyngeal dysphagia Muscle fibrillation Amyotrophic lateral sclerosis Decerebrate rigidity Personality changes Spinal muscular atrophy Apathy Incoordination Slurred speech Mood changes Internuclear ophthalmoplegia Psychotic episodes Poor head control White hair Macular hypoplasia Abnormality of retinal pigmentation Myopia Nevus Exotropia Neoplasm of the skin Congenital nystagmus Abnormal anterior horn cell morphology Renal cell carcinoma Ocular albinism Red hair Zebra bodies GM2-ganglioside accumulation Therapeutic abortion Cherry red spot of the macula Seizures Hyperkinesis Global developmental delay Cerebellar atrophy Rigidity Respiratory failure Myoclonus Dementia Rod-cone dystrophy Pes cavus Visual loss Depressivity Dystonia Behavioral abnormality Hypertonia Blindness Mental deterioration Dysphagia Gait disturbance Tremor Optic atrophy Skeletal muscle atrophy Dysarthria Peripheral neuropathy Spasticity Muscle weakness Ataxia Hearing impairment Generalized hypotonia Proximal muscle weakness Developmental regression Progressive hearing impairment Memory impairment Hypercholesterolemia EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Fasciculations Hallucinations Progressive muscle weakness Involuntary movements Clumsiness Choreoathetosis Psychosis Urinary incontinence Irritability Generalized muscle weakness Abnormal cerebellum morphology Muscle cramps Neurodegeneration Sensory neuropathy Falls Confusion Lower limb muscle weakness Limb muscle weakness Paralysis Pallor Freckles in sun-exposed areas



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