Melanoma, and Bradykinesia

Diseases related with Melanoma and Bradykinesia

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


Top matches:

Low match FAMILIAL MELANOMA


Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Related symptoms:

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MELANOMA

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 XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

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Other less relevant matches:

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13


Related symptoms:

  • Tremor
  • Rigidity
  • Bradykinesia
  • Parkinsonism with favorable response to dopaminergic medication


SOURCES: MESH OMIM MENDELIAN

More info about PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13

Low match PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11


Related symptoms:

  • Rigidity
  • Postural instability
  • Bradykinesia
  • Resting tremor
  • Parkinsonism with favorable response to dopaminergic medication


SOURCES: MESH OMIM MENDELIAN

More info about PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11

Top 5 symptoms//phenotypes associated to Melanoma and Bradykinesia

Symptoms // Phenotype % cases
Rigidity Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Rare Symptoms - Less than 30% cases


Decreased testicular size Parkinsonism with favorable response to dopaminergic medication Mental deterioration Developmental regression Falls Sensory neuropathy Choreoathetosis Slurred speech Short stature Postural instability Microcephaly Strabismus Dry skin Bone marrow hypocellularity Sensorineural hearing impairment Cataract Pes cavus Cutaneous photosensitivity Cryptorchidism Cognitive impairment Anemia Hypogonadism Retinopathy Resting tremor Optic atrophy Abnormality of extrapyramidal motor function Seizures Global developmental delay Spasticity Gait disturbance Freckling Dysarthria Severe short stature Hernia Obesity Clinodactyly Inguinal hernia Babinski sign Visual loss Diabetes mellitus Micropenis Midface retrusion Hypothyroidism Mandibular prognathia High forehead Deeply set eye Postnatal growth retardation Sparse hair Abnormal pyramidal sign Attention deficit hyperactivity disorder Thrombocytopenia Immunodeficiency Recurrent infections Defective DNA repair after ultraviolet radiation damage Hypermelanotic macule Macule Telangiectasia of the skin Blepharitis Poikiloderma Craniofacial hyperostosis Entropion Conjunctival telangiectasia Papilloma Ankyloblepharon Neoplasm of the eye Prominent nasal bridge Flat nasal alae Growth delay Nystagmus Abnormal facial shape Delayed speech and language development Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Cardiomyopathy Long philtrum Short philtrum Small for gestational age Keratitis Cerebellar vermis atrophy Dysdiadochokinesis Postural tremor Unilateral renal agenesis Bilateral cryptorchidism Sensory axonal neuropathy High pitched voice Ectopic kidney Cortical gyral simplification Truncal obesity Long nose Abnormality of lipid metabolism Leukopenia Increased circulating gonadotropin level Low hanging columella Misalignment of teeth Shuffling gait Chronic lung disease Glioma Multinodular goiter Gastrointestinal stroma tumor Long neck Nevus Goiter Acanthosis nigricans Dilated cardiomyopathy Limb undergrowth Hypermetropia Synophrys Dysmetria Long face Polyneuropathy Triangular face Broad nasal tip Progressive cerebellar ataxia Renal agenesis Convex nasal ridge Pigmentary retinopathy Short chin Abnormality of the hair Sloping forehead Hypotelorism Apraxia Epidermal acanthosis Renal hypoplasia Broad-based gait Abnormal lung morphology Insulin resistance Lymphopenia Hypergonadotropic hypogonadism Squamous cell carcinoma Dermal atrophy Melanocytic nevus Progressive hearing impairment Involuntary movements Progressive muscle weakness Hallucinations Fasciculations Aspiration Foot dorsiflexor weakness Muscle stiffness EMG abnormality Hypercholesterolemia Hyperkinesis Blindness Poor head control Dysphagia Incoordination Apathy Spinal muscular atrophy Personality changes Oral-pharyngeal dysphagia Amyotrophic lateral sclerosis Muscle fibrillation Loss of speech Clumsiness Psychosis Action tremor Paralysis Dementia Myoclonus Respiratory failure Depressivity Proximal muscle weakness Dystonia Behavioral abnormality Irritability Pallor Ophthalmoplegia Memory impairment Limb muscle weakness Lower limb muscle weakness Confusion Hypertonia Cerebellar atrophy Neurodegeneration Muscle cramps Abnormal cerebellum morphology Generalized muscle weakness Urinary incontinence Proximal amyotrophy Torsion dystonia Ectropion Telangiectasia Hyperkeratosis Arthralgia Photophobia EEG abnormality Neoplasm of the breast Erythema Abnormality of the lymphatic system Neoplasm of the pancreas Thin skin Thickened skin Neoplasm of the stomach Abnormal vertebral morphology Aminoaciduria Conjunctivitis Opacification of the corneal stroma Intellectual disability, progressive Neoplasm of the skin Reduced tendon reflexes Hypopigmented skin patches Rod-cone dystrophy Pterygium Cerebral cortical atrophy Alopecia Exaggerated startle response GM2-ganglioside accumulation Psychomotor deterioration Paranoia Mood changes Decerebrate rigidity Psychotic episodes Abnormal anterior horn cell morphology Cherry red spot of the macula Therapeutic abortion Internuclear ophthalmoplegia Zebra bodies Delayed skeletal maturation Intellectual disability Scoliosis Skeletal muscle atrophy Failure to thrive Muscle weakness Generalized hypotonia Fever Fatigue Abnormality of the dentition Hyporeflexia Carcinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Patent ductus arteriosus, related diseases and genetic alterations Ptosis and Joint hypermobility, related diseases and genetic alterations Spasticity and Cardiomyopathy, related diseases and genetic alterations Cryptorchidism and Inflammatory abnormality of the skin, related diseases and genetic alterations Hypertelorism and Hernia, related diseases and genetic alterations Intellectual disability and Bifid uvula, related diseases and genetic alterations Neoplasm and Polyhydramnios, related diseases and genetic alterations

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