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Items: 12

1.

HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE

MedGen UID:
866070
Concept ID:
C4017633
Finding
2.

HEXA, DN ALLELE PHENOTYPE

MedGen UID:
866069
Concept ID:
C4017632
Finding
3.

GM2-GANGLIOSIDOSIS, CHRONIC

MedGen UID:
865425
Concept ID:
C4016988
Finding
4.

Adult GM2 gangliosidosis

MedGen UID:
853856
Concept ID:
C2874270
Disease or Syndrome
5.

Juvenile GM2 gangliosidosis

MedGen UID:
541260
Concept ID:
C0268276
Disease or Syndrome
6.

Gm2-gangliosidosis, variant b1

MedGen UID:
413569
Concept ID:
C2749283
Disease or Syndrome
7.

Tay-sachs disease, juvenile

MedGen UID:
341333
Concept ID:
C1848913
Disease or Syndrome
8.

Tay-Sachs disease, pseudo-AB variant

MedGen UID:
336453
Concept ID:
C1848917
Disease or Syndrome
9.

Tay-Sachs disease, B1 variant

MedGen UID:
336452
Concept ID:
C1848916
Disease or Syndrome
10.

Gm2-gangliosidosis, adult chronic type

MedGen UID:
336451
Concept ID:
C1848915
Disease or Syndrome
11.

Hexosaminidase A deficiency, adult type

MedGen UID:
336450
Concept ID:
C1848914
Disease or Syndrome
12.

Tay-Sachs disease

Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis. [from GeneReviews]

MedGen UID:
11713
Concept ID:
C0039373
Disease or Syndrome
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