Amish infantile epilepsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GM3 SYNTHASE DEFICIENCY
EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC
infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness
Number of Symptoms 40
OrphanetNr: 171714
OMIM Id: 609056
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ST3GAL5-CDG
 -Rare genetic disease
 -Rare neurologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0100704) Cortical visual impairment 28 / 7739
4
 (HPO:0000572) Visual loss 272 / 7739
5
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
6
 (HPO:0002376) Developmental regression 74 / 7739
7
 (HPO:0001344) Absent speech 57 / 7739
8
 (HPO:0012391) Hyporeflexia of upper limbs 2 / 7739
9
 (HPO:0001336) Myoclonus 115 / 7739
10
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0001266) Choreoathetosis 57 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0002133) Status epilepticus 59 / 7739
15
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
16
 (HPO:0000737) Irritability 93 / 7739
17
 (HPO:0006834) Developmental stagnation at onset of seizures 1 / 7739
18
 (HPO:0011968) Feeding difficulties 240 / 7739
19
 (HPO:0002013) Vomiting 191 / 7739
20
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (OMIM) EEG shows multifocal epileptiform discharges on diffuse slow background 1 / 7739
27
 (MedDRA:10069633) Decreased eye contact 1 / 7739
28
 (OMIM) Inability to reach 1 / 7739
29
 (OMIM) Hyporeflexia in the upper limbs 2 / 7739
30
 (OMIM) De- or hypo-pigmented macules (less common) 1 / 7739
31
 (OMIM) Startle myoclonus 1 / 7739
32
 (OMIM) Hyperpigmented 2 to 5-mm macules mainly on the extremities 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (OMIM) Tonic spasms 1 / 7739
35
 (OMIM) Eye deviation 2 / 7739
36
 (OMIM) Inability to sit unsupported 1 / 7739
37
 (HPO:0002283) Global brain atrophy 12 / 7739
38
 (OMIM) Seizures are difficult to control 1 / 7739
39
 (OMIM) Dyspigmentation 1 / 7739
40
 (OMIM) Non-purposeful arm movements, choreoathetoid-like 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amish infantile epilepsy syndrome is an autosomal recessive neurologic disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by ...
Clinical Description OMIM Simpson et al. (2004) described an autosomal recessive infantile-onset epilepsy syndrome associated with developmental stagnation and blindness in the Old Order Amish of Geauga County, Ohio. All surviving members of the 2 branches of the single large family ...
Molecular genetics OMIM By sequencing several genes in the region of linkage on 2p12-p11.2 identified in an Amish family segregating an infantile-onset epilepsy syndrome, Simpson et al. (2004) identified a nonsense mutation in the SIAT9 gene (604402.0001), whose product functions as ...