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Items: 1 to 20 of 33

1.

Neurofibromatosis, type 2

Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop. [from GeneReviews]

MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
2.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
3.

Episodic ataxia type 2

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from OMIM]

MedGen UID:
314039
Concept ID:
C1720416
Disease or Syndrome
4.

Hereditary motor and sensory neuropathy with optic atrophy

MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form. [from GeneReviews]

MedGen UID:
140747
Concept ID:
C0393807
Disease or Syndrome
5.

Autosomal recessive nonsyndromic hearing loss 77

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. [from MONDO]

MedGen UID:
412541
Concept ID:
C2746083
Disease or Syndrome
6.

Autosomal dominant nonsyndromic hearing loss 2A

DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 nonsyndromic hearing loss have severe-to-profound hearing impairment. [from GeneReviews]

MedGen UID:
436997
Concept ID:
C2677637
Disease or Syndrome
7.

Autosomal dominant nonsyndromic hearing loss 9

DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006). [from OMIM]

MedGen UID:
371327
Concept ID:
C1832425
Disease or Syndrome
8.

Autosomal dominant nonsyndromic hearing loss 36

An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss. [from NCI]

MedGen UID:
376173
Concept ID:
C1847626
Disease or Syndrome
9.

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from OMIM]

MedGen UID:
813897
Concept ID:
C3807567
Disease or Syndrome
10.

Autosomal dominant nonsyndromic hearing loss 44

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. [from MONDO]

MedGen UID:
334525
Concept ID:
C1843895
Disease or Syndrome
11.

Autosomal dominant nonsyndromic hearing loss 50

Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009). [from OMIM]

MedGen UID:
854780
Concept ID:
C3888123
Disease or Syndrome
12.

Autosomal dominant nonsyndromic hearing loss 64

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. [from MONDO]

MedGen UID:
481578
Concept ID:
C3279948
Disease or Syndrome
13.

Chiari type I malformation

Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) [from HPO]

MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality
14.

Deafness, X-linked 5

X-linked deafness-5 is a neurologic disorder characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment affecting the peripheral nervous system (summary by Zong et al., 2015). [from OMIM]

MedGen UID:
335096
Concept ID:
C1845095
Disease or Syndrome
15.

Autosomal dominant nonsyndromic hearing loss 41

Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by Yan et al., 2013). [from OMIM]

MedGen UID:
330834
Concept ID:
C1842371
Disease or Syndrome
16.

Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

MedGen UID:
340145
Concept ID:
C1854146
Disease or Syndrome
17.

Episodic ataxia type 4

A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia. [from SNOMEDCT_US]

MedGen UID:
376222
Concept ID:
C1847843
Disease or Syndrome
18.

Hyperostosis cranialis interna

Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010). [from OMIM]

MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
19.

Episodic ataxia type 3

A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. [from SNOMEDCT_US]

MedGen UID:
376220
Concept ID:
C1847839
Disease or Syndrome
20.

Autosomal dominant nonsyndromic hearing loss 16

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. [from MONDO]

MedGen UID:
349054
Concept ID:
C1858916
Disease or Syndrome
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