Hydrocephalus, and Melanoma

Diseases related with Hydrocephalus and Melanoma

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

Top matches:

Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

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

Other less relevant matches:

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

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Melanoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Neoplasm of the skin Melanocytic nevus Papilloma Hypopigmented skin patches Hearing impairment Microcephaly Astrocytoma Hypertelorism Cataract Generalized hirsutism Optic atrophy Papule Cranial nerve paralysis

Rare Symptoms - Less than 30% cases

Carcinoma Cutaneous photosensitivity High palate Cafe-au-lait spot Retinopathy Micrognathia Macule Spasticity Generalized hypotonia Basal cell carcinoma Microphthalmia Downslanted palpebral fissures Recurrent respiratory infections Atrial septal defect Cognitive impairment Pain Meningioma Palmoplantar hyperkeratosis Squamous cell carcinoma of the skin Intracranial hemorrhage Low-set ears Abnormality of the kidney Ventriculomegaly Brachydactyly Palmoplantar keratoderma Increased intracranial pressure Dermal atrophy Abnormality of skin pigmentation Polyhydramnios Subcutaneous nodule Nevus Choroid plexus papilloma Failure to thrive Long penis Cystic hygroma Cutaneous melanoma Dysdiadochokinesis Incoordination Midface capillary hemangioma Enlarged labia minora Premature separation of centromeric heterochromatin Hand polydactyly Tetraphocomelia Goiter Cutis marmorata Abnormality of the thyroid gland Breast carcinoma Hemangioma Bilateral radial aplasia Multiple lipomas Cellulitis Recurrent infections Multiple cafe-au-lait spots Thyroiditis Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Drooling Aplasia of the ulna Hyperthyroidism Talipes equinovalgus Hamartoma Absent earlobe Acute myeloid leukemia Frontal encephalocele Intermittent thrombocytopenia Gynecomastia Scoliosis Frontal bossing Intellectual disability, moderate Skin tags Macrocephaly Proximal muscle weakness Tremor Hypothyroidism Narrow mouth Myopathy Nausea and vomiting Autism Diarrhea Pectus excavatum Intellectual disability, mild Kyphosis Immunodeficiency Headache Leukemia Joint hypermobility Lymphopenia Intention tremor Dilatation Exotropia Chronic diarrhea Muscle weakness Delayed speech and language development Telangiectasia Broad thumb Overgrowth Polymicrogyria Decreased antibody level in blood Lymphoma Macroglossia Motor delay Abnormal cerebellum morphology Hypoplasia of the maxilla Myopia Skeletal muscle atrophy Prolactin excess Abnormality of the penis Megalencephaly Hyperhidrosis Hypertrichosis Cerebral calcification Arachnodactyly Carious teeth Hypotrichosis Nail dystrophy Erythema Hyperkeratosis Abnormality of the dentition Abnormality of the fingernails Increased cellular sensitivity to UV light Abnormal CNS myelination Progeroid facial appearance Basal ganglia calcification Freckling Decreased nerve conduction velocity Abnormality of the cardiovascular system Pigmentary retinopathy Retinal degeneration Abnormality of the nail Osteolysis Severe short stature Stomatitis Halitosis Chronic furunculosis Severe periodontitis Choroid plexus calcification Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Plantar hyperkeratosis Premature loss of primary teeth Fragile nails Recurrent skin infections Periodontitis Gingivitis Pustule Premature loss of teeth Sparse body hair Squamous cell carcinoma Keratitis Scaling skin Reduced number of teeth Hypogonadism Cerebellar atrophy Hydrocele testis Fibroma Ovarian carcinoma Angioid streaks of the fundus Bilateral renal agenesis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Hamartomatous polyposis Thyroid adenoma Enlarged polycystic ovaries Cavernous hemangioma Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Intestinal polyp Varicocele Intellectual disability, severe Enlarged cerebellum Hyperreflexia Sensorineural hearing impairment Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Cutis marmorata telangiectatica congenita Follicular thyroid carcinoma Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Triangular mouth Clitoral hypertrophy Accessory spleen Venous thrombosis Syringomyelia Generalized hyperpigmentation Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Encephalitis Arnold-Chiari malformation Renal hypoplasia/aplasia Abnormality of retinal pigmentation Meningocele Thickened skin Hemiparesis Dandy-Walker malformation Mental deterioration Abnormality of the nervous system EEG abnormality Behavioral abnormality Hypertension Arachnoid cyst Spinal cord compression Abnormality of amino acid metabolism Ascites Restrictive ventilatory defect Emphysema Nephroblastoma Lymphedema Abnormal lung morphology Myocardial infarction Gastrointestinal hemorrhage Chest pain Hematuria Numerous congenital melanocytic nevi Lymphadenopathy Cough Dyspnea Respiratory failure Abdominal pain Respiratory distress Fatigue Fever Numerous pigmented freckles Arteriosclerosis Pulmonary infiltrates Prominent forehead Sarcoma Open mouth Round face Full cheeks Broad nasal tip Everted lower lip vermilion Pruritus Broad forehead Long philtrum Hypermelanotic macule Short nose Ependymoma Glioblastoma multiforme Schwannoma Glioma Brain neoplasm Neurofibromas Growth abnormality Deep philtrum Narrow nasal bridge Demyelinating peripheral neuropathy Dysarthria Poikiloderma Prematurely aged appearance Urticaria Cachexia Diplopia Confusion Dry skin Skin rash Nystagmus Calvarial skull defect Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Hemoptysis Multiple renal cysts Craniofacial dysostosis Recurrent urinary tract infections Radial deviation of finger Polycystic kidney dysplasia Eosinophilia Abnormality of the metacarpal bones Opacification of the corneal stroma Knee flexion contracture Horseshoe kidney Elbow flexion contracture Abnormality of the genital system Anonychia Encephalocele Blue sclerae Oligohydramnios Convex nasal ridge Renal agenesis Underdeveloped nasal alae Renal cyst Cleft upper lip Bilateral talipes equinovarus Short femoral neck Corneal opacity Eyelid coloboma Narrow naris Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Biliary tract abnormality Subvalvular aortic stenosis Bicornuate uterus Bilateral cleft lip and palate Oligodactyly Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Absent radius Fibular hypoplasia Talipes Prominent nasal bridge Renal neoplasm Renal angiomyolipoma Cryptorchidism Cleft palate Growth delay Chylopericardium Pulmonary lymphangiomyomatosis Cystic lung disease Ungual fibroma Retinal hamartoma Bronchiolitis obliterans Wide nasal bridge Shagreen patch Abnormal urinary color Abnormality of the lymphatic system Chylothorax Bronchiolitis Pneumothorax Abnormality of female internal genitalia Atelectasis Flexion contracture Ventricular septal defect Short philtrum Proptosis Coloboma Sparse hair Craniosynostosis Paralysis Postnatal growth retardation Cleft lip Skeletal dysplasia Retrognathia Glaucoma Talipes equinovarus Brachycephaly Posteriorly rotated ears Patent ductus arteriosus Clinodactyly Hypospadias Thrombocytopenia Syndactyly Malar flattening Short neck Atrophy of alveolar ridges


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Alopecia, related diseases and genetic alterations Melanoma and Lactic acidosis, related diseases and genetic alterations Melanoma and Proteinuria, related diseases and genetic alterations