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Items: 11

1.

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved. [from GeneReviews]

MedGen UID:
148458
Concept ID:
C0752124
Disease or Syndrome
2.

Migraine, with or without aura, susceptibility to, 13

Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. [from MONDO]

MedGen UID:
900808
Concept ID:
C4225479
Finding
3.

Migraine with or without aura, susceptibility to, 6

MedGen UID:
334829
Concept ID:
C1843765
Finding
4.

Migraine, familial typical, susceptibility to, 2

MedGen UID:
341144
Concept ID:
C1848066
Finding
5.

Migraine with or without aura, susceptibility to, 11

MedGen UID:
387900
Concept ID:
C1857751
Finding
6.

Migraine with or without aura, susceptibility to, 10

MedGen UID:
341839
Concept ID:
C1857752
Finding
7.

Migraine with or without aura, susceptibility to, 3

MedGen UID:
375283
Concept ID:
C1843782
Finding
8.

Migraine with or without aura, susceptibility to, 5

Migraine is a common complex disorder that shows strong familial aggregation. The disorder is generally characterized by chronic episodic headache usually associated with nausea and vomiting (summary by Nyholt et al., 1998). For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). [from OMIM]

MedGen UID:
334831
Concept ID:
C1843771
Finding
9.

Advanced sleep phase syndrome 2

Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348). [from OMIM]

MedGen UID:
815204
Concept ID:
C3808874
Disease or Syndrome
10.

Migraine without aura, susceptibility to, 4

Migraine is a complex and heterogeneous disorder characterized by recurrent attacks of headache associated with autonomic and neurologic symptoms. Two primary types of migraine can be distinguished: migraine without aura and migraine with aura. Usually, 1 type of migraine prevails intraindividually. Migraine without aura (MO) is the more common form and is characterized by unilateral pulsating headache of moderate to severe intensity, lasting 4 to 72 hours. The attacks are associated with nausea, vomiting, and photo- and phonophobia and are aggravated by physical activity. Frequency, severity, and duration vary substantially (summary by Soragna et al., 2003). For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). [from OMIM]

MedGen UID:
336040
Concept ID:
C1843773
Finding
11.

Migraine without aura

Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria [from HPO]

MedGen UID:
137899
Concept ID:
C0338480
Disease or Syndrome
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