Hydrocephalus, and Pheochromocytoma

Diseases related with Hydrocephalus and Pheochromocytoma

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

Top matches:

Medium match TESTICULAR TERATOMA

Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Other less relevant matches:

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp|choroid plexus papilloma

Related symptoms:

  • Seizures
  • Neoplasm
  • Cognitive impairment
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Neurofibromas Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Increased intracranial pressure Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Carcinoma Visual impairment Visual loss Headache Hypertension Glaucoma Nausea and vomiting Blindness Pain Intellectual disability Astrocytoma Leiomyosarcoma Renal cell carcinoma

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Pancreatic cysts Weight loss Glioblastoma multiforme Ataxia Nystagmus Sensorineural hearing impairment Retinal capillary hemangioma Cataract Leukemia Multiple renal cysts Arrhythmia Hemiplegia/hemiparesis Hypoglycemia Dilatation Choroid plexus papilloma Retinal detachment Lymphoma Capillary hemangioma Vertigo Cryptorchidism Papillary cystadenoma of the epididymis Soft tissue sarcoma Brain neoplasm Glioma Schwannoma Retinoblastoma Abnormal facial shape Cognitive impairment Vestibular Schwannoma Neuroma Anemia Carcinoid tumor Paraganglioma Scoliosis Neoplasm of the endocrine system Intellectual disability, mild Abnormality of cardiovascular system morphology Vomiting Overgrowth Behavioral abnormality Sarcoma Macrocephaly Papilledema Facial asymmetry Chromosome breakage Acute myeloid leukemia Anisocoria Cellulitis Proptosis Myelodysplasia Ocular pain Inflammatory abnormality of the eye Vitreous hemorrhage Osteosarcoma Skin rash Acute monocytic leukemia Buphthalmos Anorexia Uveitis Postural instability Anemia of inadequate production Polyhydramnios Malar flattening Dural ectasia Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Fibular bowing Neurofibrosarcoma Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Nasolacrimal duct obstruction Rhabdomyosarcoma Embryonal rhabdomyosarcoma Optic nerve glioma Cleft palate Malar rash Strabismus Microcephaly Ependymoma Papilloma Growth abnormality Melanoma Brow ptosis Subcutaneous neurofibromas Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Leukocoria Macroglossia Fibrosarcoma Increased body weight Polyphagia Impotence Diabetes insipidus Increased susceptibility to fractures Sleep apnea Hypogonadotrophic hypogonadism Myocardial infarction Hypopituitarism Type II diabetes mellitus Cerebral calcification Amenorrhea Hypotension Coma Sleep disturbance Nausea Orthostatic hypotension Proportionate short stature Delayed puberty Enlarged pituitary gland Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Slow decrease in visual acuity Prolactin excess Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Confusion Lethargy Burkitt lymphoma Iris neovascularization Anomalous pulmonary venous return Polymicrogyria Papule Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Pineal cyst Hand polydactyly Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Cranial nerve paralysis Ovarian neoplasm Postnatal growth retardation Optic atrophy Anxiety Hypothyroidism Hypogonadism Constipation Obesity Recurrent infections Fatigue Growth delay Acrokeratosis Global developmental delay Abnormality of nervous system morphology Hypertonia Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Neoplasm of the thyroid gland Night sweats Bone pain Complete atrioventricular canal defect Neoplasm of the middle ear Sensory neuropathy Migraine Multicystic kidney dysplasia Polycystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Telangiectasia of the skin Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Visceral angiomatosis Abnormality of the lymphatic system Neuroendocrine neoplasm Vascular neoplasm Edema Abnormality of the kidney Hamartoma Renal neoplasm Hyperaldosteronism Neoplasm of the pancreas Subarachnoid hemorrhage Exocrine pancreatic insufficiency Polycythemia Hypercalcemia Abnormality of the liver Hypokalemia Tinnitus Hemangioma Progressive visual loss Nevus Renal cyst Neurological speech impairment Hyperhidrosis Choroidal neovascularization Testicular neoplasm Abnormality of the dentition Testicular teratoma Testicular microlithiasis Choriocarcinoma Dysgerminoma Testicular dysgenesis Teratoma Inguinal hernia Gonadal dysgenesis Male infertility Colon cancer Azoospermia Infertility Abnormality of metabolism/homeostasis Hernia Bicuspid aortic valve Gait disturbance Adrenocortical adenoma Hemiareflexia Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Hemihypertrophy Nephroblastoma Communicating hydrocephalus Myelomeningocele Increased circulating cortisol level Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Facial paralysis Posterior uveitis Parathyroid adenoma Cafe-au-lait spot Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Aganglionic megacolon Back pain Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Incoordination Precocious puberty Recurrent fractures Severe vision loss Aqueductal stenosis Myocardial fibrosis Meningioma Gangrene Increased reactive oxygen species production Overweight Osteomalacia Clitoral hypertrophy Multiple cafe-au-lait spots Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Gastrointestinal hemorrhage Peripheral axonal neuropathy Adrenal pheochromocytoma Neoplasm of the ear Dysarthria Peripheral neuropathy Delayed speech and language development Ptosis Hypertelorism Short stature Secondary hyperaldosteronism Respiratory insufficiency Spinal hemangioblastoma Hemangioblastoma Pulmonary capillary hemangiomatosis Cerebellar hemangioblastoma Epididymal cyst Retinal neovascularization Abnormality of the skeletal system Cardiomyopathy Paresthesia Autistic behavior Genu valgum Malabsorption Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Paralysis Hypertrophic cardiomyopathy Depressivity Osteopenia Kyphoscoliosis Autism Hyperactivity Osteoporosis Abnormal heart morphology Abnormality of the frontal bone


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