ASPARAGINE SYNTHETASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: ASNS DEFICIENCY
ASNSD
Number of Symptoms 39
OrphanetNr:
OMIM Id: 615574
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000340) Sloping forehead 86 / 7739
2
(HPO:0000253) Progressive microcephaly 37 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0100704) Cortical visual impairment 28 / 7739
6
(HPO:0000400) Macrotia 108 / 7739
7
(HPO:0001347) Hyperreflexia 363 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0002510) Spastic tetraplegia 54 / 7739
10
(HPO:0001250) Seizures 1245 / 7739
11
(HPO:0002267) Exaggerated startle response 42 / 7739
12
(HPO:0002521) Hypsarrhythmia 43 / 7739
13
(HPO:0001298) Encephalopathy 72 / 7739
14
(HPO:0002448) Progressive encephalopathy 6 / 7739
15
(HPO:0001833) Long foot 33 / 7739
16
(HPO:0001176) Large hands 43 / 7739
17
(HPO:0011968) Feeding difficulties 240 / 7739
18
(HPO:0001508) Failure to thrive 454 / 7739
19
(HPO:0002093) Respiratory insufficiency 410 / 7739
20
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
21
(OMIM) Jitteriness 1 / 7739
22
(OMIM) Appendicular hypertonia 1 / 7739
23
(OMIM) Large feet 12 / 7739
24
(HPO:0002539) Cortical dysplasia 19 / 7739
25
(OMIM) Burst suppression pattern seen on EEG 1 / 7739
26
(OMIM) Pontine hypoplasia 8 / 7739
27
(HPO:0003676) Progressive disorder 148 / 7739
28
(OMIM) Decreased asparagine levels (in some patients) 1 / 7739
29
(OMIM) Multiple independent spike foci 1 / 7739
30
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
31
(HPO:0009879) Cortical gyral simplification 24 / 7739
32
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
(OMIM) Brain imaging shows cortical atrophy 1 / 7739
34
(HPO:0002119) Ventriculomegaly 253 / 7739
35
(OMIM) Delayed psychomotor development, profound 3 / 7739
36
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
37
(HPO:0012110) Hypoplasia of the pons 16 / 7739
38
(HPO:0012448) Delayed myelination 51 / 7739
39
(OMIM) Simplified gyral pattern 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) ASNS deficiency is an autosomal recessive severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. The disorder shows onset in utero or at birth and may result in ...
Clinical Description OMIM Ruzzo et al. (2013) reported 9 patients from 4 unrelated families with a similar phenotype characterized by congenital and progressive microcephaly (up to -7 SD), lack of or severely delayed psychomotor development, appendicular hypertonia and hyperreflexia, and decreased ...
Molecular genetics OMIM In 9 patients from 4 unrelated families with ASNS deficiency, Ruzzo et al. (2013) identified 3 different homozygous or compound heterozygous missense mutations in the ASNS gene (108370.0001-108370.0003). The mutations were found by whole-exome sequencing and segregated with ...