Ataxia, and Retinoblastoma

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

• Intellectual disability
• Growth delay
• Neoplasm
• Failure to thrive
• Spasticity

SOURCES: MESH OMIM ORPHANET MENDELIAN

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

• Seizures
• Hearing impairment
• Ataxia
• Neoplasm
• Sensorineural hearing impairment

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

• Seizures
• Hearing impairment
• Ataxia
• Dysarthria
• Tremor

SOURCES: OMIM MENDELIAN

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

• Ataxia
• Sensorineural hearing impairment
• Cataract
• Visual impairment
• Gait disturbance

SOURCES: ORPHANET MENDELIAN

OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

• Short stature
• Neoplasm
• Abnormality of metabolism/homeostasis
• Sarcoma
• Osteosarcoma

SOURCES: OMIM ORPHANET MENDELIAN

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

• Ataxia
• Neoplasm
• Failure to thrive
• Pain
• Anemia

SOURCES: ORPHANET OMIM MENDELIAN

Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

• Neoplasm
• Carcinoma
• Subcutaneous nodule
• Neoplasm of the lung
• Retinoblastoma

SOURCES: ORPHANET OMIM MENDELIAN

Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

• Neoplasm
• Pain
• Carcinoma
• Gynecomastia
• Breast carcinoma

SOURCES: ORPHANET OMIM MENDELIAN