Melanoma, and Progressive cerebellar ataxia

Diseases related with Melanoma and Progressive cerebellar ataxia

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

Top matches:

Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

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

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

Other less relevant matches:

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

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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

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

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

Top 5 symptoms//phenotypes associated to Melanoma and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Cutaneous photosensitivity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Melanoma and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Dermal atrophy Telangiectasia Mental deterioration Sensorineural hearing impairment Choreoathetosis Short stature Peripheral neuropathy Poikiloderma Cataract Global developmental delay Dysarthria Optic atrophy Cerebellar atrophy Seizures Defective DNA repair after ultraviolet radiation damage Cognitive impairment Ventriculomegaly Anemia Entropion Severe short stature Hypogonadism Strabismus Retinopathy Gait disturbance Keratitis Ectropion Photophobia Tremor Carcinoma Abnormality of the nervous system Hyporeflexia Diabetes mellitus Nystagmus Conjunctivitis Slurred speech

Rare Symptoms - Less than 30% cases

Generalized hypotonia Behavioral abnormality EEG abnormality Failure to thrive Thickened skin Bone marrow hypocellularity Decreased testicular size Rigidity Scoliosis Muscle weakness Melanocytic nevus Myoclonus Skeletal muscle atrophy Reduced tendon reflexes Pes cavus Falls Sensory neuropathy Conjunctival telangiectasia Telangiectasia of the skin Spinal muscular atrophy Cryptorchidism Lymphopenia Dystonia Abnormal vertebral morphology Apraxia Abnormal cerebellum morphology Polyneuropathy Leukemia Recurrent infections Immunodeficiency Acute lymphoblastic leukemia Papilloma Developmental regression Dry skin Freckling Basal cell carcinoma Hydrocephalus Squamous cell carcinoma of the skin Prematurely aged appearance Breast carcinoma Pigmentary retinopathy Microphthalmia Fatigue Neoplasm of the skin Confusion Macule Psychotic episodes Psychomotor deterioration Decerebrate rigidity Mood changes Paranoia Cherry red spot of the macula Exaggerated startle response Torsion dystonia Blepharitis Abnormal anterior horn cell morphology Growth delay Therapeutic abortion Intrauterine growth retardation Midface retrusion Long philtrum Intellectual disability, progressive Hypopigmented skin patches Cardiomyopathy Hypoplasia of the corpus callosum Delayed speech and language development Internuclear ophthalmoplegia Pterygium Squamous cell carcinoma Hypermelanotic macule Abnormal facial shape Zebra bodies GM2-ganglioside accumulation Action tremor Muscle fibrillation Proximal amyotrophy Neurodegeneration Clumsiness Psychosis Memory impairment Urinary incontinence Generalized muscle weakness Muscle cramps Ankyloblepharon Progressive muscle weakness Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Paralysis Neoplasm of the eye Pallor Irritability Involuntary movements Hallucinations Loss of speech Poor head control Hernia Amyotrophic lateral sclerosis Oral-pharyngeal dysphagia Personality changes Apathy Incoordination Hyperkinesis Fasciculations Progressive hearing impairment Craniofacial hyperostosis Hypercholesterolemia EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Thrombocytopenia Low hanging columella Obesity Broad-based gait Acanthosis nigricans Short chin Multinodular goiter Hypergonadotropic hypogonadism Insulin resistance Abnormal lung morphology Renal hypoplasia Goiter Epidermal acanthosis Hypotelorism Sloping forehead Bradykinesia Limb undergrowth Gastrointestinal stroma tumor Leukopenia Dysdiadochokinesis Convex nasal ridge Shuffling gait Abnormality of lipid metabolism Cerebellar vermis atrophy Misalignment of teeth Long nose Truncal obesity Cortical gyral simplification Chronic lung disease Postural tremor Ectopic kidney Glioma High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Long neck Renal agenesis Clinodactyly High forehead Short philtrum Attention deficit hyperactivity disorder Abnormal pyramidal sign Sparse hair Postnatal growth retardation Deeply set eye Aminoaciduria Small for gestational age Mandibular prognathia Hypothyroidism Increased circulating gonadotropin level Babinski sign Opacification of the corneal stroma Inguinal hernia Prominent nasal bridge Dilated cardiomyopathy Fever Arthralgia Abnormality of the dentition Delayed skeletal maturation Broad nasal tip Alopecia Cerebral cortical atrophy Hyperkeratosis Erythema Hypermetropia Abnormality of extrapyramidal motor function Triangular face Long face Thin skin Dysmetria Synophrys Micropenis Recurrent lower respiratory tract infections Proximal muscle weakness Renal hypoplasia/aplasia Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Intracranial hemorrhage Encephalitis Increased intracranial pressure Arnold-Chiari malformation Venous thrombosis Generalized hyperpigmentation Cranial nerve paralysis Generalized hirsutism Abnormality of retinal pigmentation Hemiparesis Dandy-Walker malformation Nevus Abnormality of neuronal migration Syringomyelia Gonadal hypoplasia Recurrent respiratory infections Abnormality of the liver Respiratory tract infection Anxiety Elevated hepatic transaminase Difficulty walking Gait ataxia Pneumonia Arachnoid cyst Flexion contracture Numerous congenital melanocytic nevi Choroid plexus papilloma Astrocytoma Meningioma Spinal cord compression Meningocele Hypertension Olivopontocerebellar atrophy Neurological speech impairment Exocrine pancreatic insufficiency Corneal neovascularization Keratoconjunctivitis sicca Increased level of L-fucose in urine Pancreatic adenocarcinoma Chronic pancreatitis Neoplasm of the pancreas Ovarian neoplasm Intellectual disability, severe Colon cancer Pancreatitis Jaundice Weight loss Abdominal pain Pain Hyperreflexia Retinal degeneration Progressive neurologic deterioration Cachexia Areflexia Numerous pigmented freckles Abnormality of amino acid metabolism Arteriosclerosis Demyelinating peripheral neuropathy Urticaria Diplopia Abnormality of the cardiovascular system Skin rash Increased cellular sensitivity to UV light Abnormal CNS myelination Cutaneous melanoma Progeroid facial appearance Basal ganglia calcification Decreased nerve conduction velocity Distal muscle weakness Delayed puberty Respiratory failure Cellular immunodeficiency Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Abnormality of chromosome stability Chronic lymphatic leukemia Female hypogonadism Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Chronic hepatitis Increased sensitivity to ionizing radiation Recurrent bronchitis Dysphagia Dementia Rod-cone dystrophy Visual loss Depressivity Hypertonia Blindness Defective B cell differentiation Aplasia/Hypoplasia of the thymus IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Renal neoplasm Chromosome breakage Abnormality of eye movement Type II diabetes mellitus Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Intention tremor Pancytopenia Hepatitis Truncal ataxia Decreased antibody level in blood Lymphoma Chorea Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of the hair Recurrent pneumonia Severe combined immunodeficiency Multiple cafe-au-lait spots Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Myeloid leukemia Abnormality of the immune system Aplasia/Hypoplasia of the skin Oculomotor apraxia Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Polycystic ovaries Cerebral palsy Flat nasal alae


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