Melanoma, and Cone/cone-rod dystrophy

Diseases related with Melanoma and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Melanoma and Cone/cone-rod dystrophy 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 WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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Other less relevant matches:

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

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 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD


Related symptoms:

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

Low match RETINITIS PIGMENTOSA 35; RP35


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Abnormality of skin pigmentation
  • Cone/cone-rod dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 35; RP35

Low match CONE-ROD DYSTROPHY 12; CORD12


Related symptoms:

  • Visual loss
  • Reduced visual acuity
  • Progressive visual loss
  • Cutaneous photosensitivity
  • Cone/cone-rod dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 12; CORD12

Low match CONE-ROD DYSTROPHY 19; CORD19


Related symptoms:

  • Visual impairment
  • Retinal dystrophy
  • Cone/cone-rod dystrophy
  • Cone dysfunction syndrome


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 19; CORD19

Low match LEBER CONGENITAL AMAUROSIS 13; LCA13


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Hypermetropia
  • Retinal dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 13; LCA13

Top 5 symptoms//phenotypes associated to Melanoma and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Melanoma and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinal dystrophy

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Visual loss Behavioral abnormality Skeletal muscle atrophy Abnormality of the thorax Sarcoma Dermal atrophy Lipodystrophy Abnormality of the voice Myeloid leukemia Myelodysplasia Polydipsia Scleroderma Decreased fertility Telangiectasia of the skin Rocker bottom foot Polyuria Aplasia/Hypoplasia of the skin Breast carcinoma Lipoatrophy Squamous cell carcinoma High pitched voice Premature graying of hair Polyphagia Laryngomalacia Seizures Atherosclerosis Decreased body weight Hypopigmentation of the skin Coma Chest pain Convex nasal ridge Decreased testicular size Type II diabetes mellitus Myocardial infarction Sparse scalp hair Abnormality of retinal pigmentation Macular degeneration Insulin resistance Skin ulcer Abnormality of the hair Narrow face Increased bone mineral density Secondary amenorrhea Hypergonadotropic hypogonadism Spontaneous abortion Type I diabetes mellitus Hoarse voice Alopecia of scalp Ovarian neoplasm Acral lentiginous melanoma Soft tissue sarcoma Abnormal hair whorl Poliosis Subcutaneous calcification Neoplasm of the small intestine Gastrointestinal carcinoma Premature arteriosclerosis Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Abnormality of color vision Cutaneous melanoma Scotoma Abnormality of skin pigmentation Reduced visual acuity Progressive visual loss Cutaneous photosensitivity Cone dysfunction syndrome Hypermetropia Macular atrophy Congenital blindness Chorioretinitis Narrow nasal ridge Prematurely aged appearance Osteosarcoma Subcapsular cataract Premature loss of teeth Nephropathy Neoplasm of the lung Pulmonary artery stenosis Posterior subcapsular cataract Progeroid facial appearance Meningioma Renal neoplasm Abnormality of the cerebral vasculature Arteriosclerosis Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Pili torti Abnormality of the testis Slender build White forelock Thyroid carcinoma Enlarged joints Small hand Carcinoma Retinal degeneration Abnormal cerebellum morphology Paralysis Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Confusion Falls Sensory neuropathy Neurodegeneration Muscle cramps Generalized muscle weakness Irritability Urinary incontinence Memory impairment Psychosis Choreoathetosis Clumsiness Involuntary movements Progressive muscle weakness Hallucinations Fasciculations Pallor Developmental regression Foot dorsiflexor weakness Dysphagia Generalized hypotonia Hearing impairment Ataxia Muscle weakness Spasticity Dysarthria Optic atrophy Tremor Gait disturbance Cerebellar atrophy Mental deterioration Hypertonia Dystonia Depressivity Pes cavus Dementia Myoclonus Respiratory failure Rigidity Proximal muscle weakness Aspiration Muscle stiffness Leukemia Abnormality of the dentition Therapeutic abortion Internuclear ophthalmoplegia GM2-ganglioside accumulation Zebra bodies Short stature Pain Cataract Hypertension Congestive heart failure Alopecia Abnormal anterior horn cell morphology Osteoporosis Hypogonadism Diabetes mellitus Hyperkeratosis Micropenis Proptosis Global developmental delay Joint stiffness Retinopathy Cherry red spot of the macula Psychotic episodes EMG abnormality Oral-pharyngeal dysphagia Hypercholesterolemia Progressive hearing impairment Hyperkinesis Poor head control Slurred speech Incoordination Apathy Spinal muscular atrophy Personality changes Amyotrophic lateral sclerosis Decerebrate rigidity Muscle fibrillation Loss of speech Proximal amyotrophy Action tremor Torsion dystonia Exaggerated startle response Psychomotor deterioration Paranoia Mood changes Mild hypermetropia



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