Hydrocephalus, and Retinoblastoma

Diseases related with Hydrocephalus and Retinoblastoma

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


Top matches:

High 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

High match RETINOBLASTOMA; RB1


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

Low match GLIOMA SUSCEPTIBILITY 1; GLM1


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

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Other less relevant matches:

Low match LYMPHANGIOLEIOMYOMATOSIS


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

Low match VON HIPPEL-LINDAU DISEASE


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

Low match VON HIPPEL-LINDAU SYNDROME; VHL


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

Low match ISOLATED HEMIHYPERPLASIA


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

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Low match NEUROCUTANEOUS MELANOCYTOSIS


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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Retinoblastoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Uncommon - Between 30% and 50% cases
Pheochromocytoma Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neurofibromas Multiple renal cysts Melanoma Renal neoplasm Seizures Hearing impairment Increased intracranial pressure Visual loss Astrocytoma Nephroblastoma

Rare Symptoms - Less than 30% cases


Abnormality of the lymphatic system Glaucoma Glioblastoma multiforme Retinal detachment Nausea and vomiting Hematuria Abnormality of skin pigmentation Cryptorchidism Glioma Cranial nerve paralysis Leiomyosarcoma Abnormality of cardiovascular system morphology Headache Abdominal pain Sensorineural hearing impairment Nevus Sarcoma Ataxia Papilloma Hamartoma Pancreatic cysts Papillary cystadenoma of the epididymis Teratoma Fever Lymphadenopathy Embryonal neoplasm Renal cell carcinoma Hypercalcemia Capillary hemangioma Intellectual disability Retinal capillary hemangioma Blindness Visual impairment Anemia Cataract Weight loss Cleft palate Choroid plexus papilloma Nystagmus Aplasia/Hypoplasia of the cerebellum Skeletal muscle hypertrophy Bicuspid aortic valve Overgrowth Impaired pain sensation Facial asymmetry Myelomeningocele Inguinal hernia Hernia Intellectual disability, mild Abnormality of the dentition Multiple lipomas Increased circulating cortisol level Renal cyst Scoliosis Neoplasm of the endocrine system Progressive visual loss Hemangioma Tinnitus Hypokalemia Polycythemia Exocrine pancreatic insufficiency Subarachnoid hemorrhage Papilledema Neoplasm of the pancreas Hyperaldosteronism Facial paralysis Vertigo Neoplasm of the ear Paraganglioma Carcinoid tumor Choroidal neovascularization Posterior uveitis Adrenal pheochromocytoma Retinal neovascularization Epididymal cyst Cerebellar hemangioblastoma Pulmonary capillary hemangiomatosis Hemangioblastoma Spinal hemangioblastoma Secondary hyperaldosteronism Communicating hydrocephalus Irritability Hemihypertrophy Abnormality of retinal pigmentation Anterior hypopituitarism Hypothalamic hamartoma Global developmental delay Generalized hypotonia Spasticity Ventriculomegaly Behavioral abnormality EEG abnormality Abnormality of the nervous system Mental deterioration Dandy-Walker malformation Hemiparesis Thickened skin Generalized hirsutism Median cleft lip Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Spinal cord compression Meningioma Microglossia Occipital encephalocele Adrenocortical adenoma Neoplasm of the liver Asymmetric growth Asymmetry of the thorax Hepatoblastoma Hemifacial hypertrophy Hemiareflexia Respiratory insufficiency Thrombocytopenia Dilatation Subcutaneous nodule Cerebral palsy Hemiplegia Ovarian neoplasm Poor appetite Oculomotor nerve palsy Short ribs Neoplasm of the central nervous system Internal hemorrhage Micrognathia Depressed nasal bridge Macrocephaly Short nose Abnormal heart morphology Micropenis Skeletal dysplasia Hip dislocation Micromelia Pulmonary hypoplasia Postaxial hand polydactyly Renal dysplasia Abnormality of the liver Hyperhidrosis Edema Malar rash Chromosome breakage Osteosarcoma Anemia of inadequate production Acute monocytic leukemia Buphthalmos Inflammatory abnormality of the eye Vitreous hemorrhage Ocular pain Anisocoria Soft tissue sarcoma Leukocoria Fibrosarcoma Acute myeloid leukemia Burkitt lymphoma Vitritis Histiocytoma Liposarcoma Sebaceous gland carcinoma Neoplasm of the eye Hyphema Ewing sarcoma Pineal cyst Iris neovascularization Pinealoma Uveitis Cellulitis Pineoblastoma Choriocarcinoma Abnormality of metabolism/homeostasis Infertility Azoospermia Colon cancer Male infertility Gonadal dysgenesis Testicular neoplasm Testicular dysgenesis Dysgerminoma Vestibular Schwannoma Neuroma Testicular microlithiasis Myelodysplasia Testicular teratoma Microcephaly Strabismus Abnormal facial shape Vomiting Malar flattening Proptosis Skin rash Leukemia Postural instability Lymphoma Anorexia Retinal calcification Neuroblastic tumors Neoplasm of the middle ear Neurological speech impairment Shagreen patch Bronchiolitis obliterans Renal angiomyolipoma Retinal hamartoma Ungual fibroma Cystic lung disease Pulmonary lymphangiomyomatosis Chylopericardium Gait disturbance Arrhythmia Abnormality of the kidney Sensory neuropathy Chylothorax Migraine Multicystic kidney dysplasia Polycystic kidney dysplasia Hemiplegia/hemiparesis Telangiectasia of the skin Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Visceral angiomatosis Neuroendocrine neoplasm Vascular neoplasm Abnormal urinary color Bronchiolitis Polyhydramnios Cough Growth abnormality Brain neoplasm Schwannoma Ependymoma Cognitive impairment Optic atrophy Fatigue Respiratory distress Recurrent respiratory infections Respiratory failure Dyspnea Ascites Pneumothorax Chest pain Gastrointestinal hemorrhage Myocardial infarction Abnormal lung morphology Lymphedema Emphysema Restrictive ventilatory defect Macule Hemoptysis Pulmonary infiltrates Atelectasis Abnormality of female internal genitalia Numerous congenital melanocytic nevi



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