Hypotonia - failure to thrive - microcephaly

General Information (adopted from Orphanet):

Synonyms, Signs: Leukotriene C4 synthase deficiency
ltc4 synthase deficiency
Number of Symptoms 7
OrphanetNr: 79507
OMIM Id: 614037
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: Other metabolic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 9820300 IBIS 832 / 7739
2
(HPO:0001263) Global developmental delay 9820300 IBIS 853 / 7739
3
(HPO:0001531) Failure to thrive in infancy 9820300 IBIS 26 / 7739
4
(HPO:0001252) Muscular hypotonia 9820300 IBIS 990 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Leukotriene C4 synthetase deficiency 1 / 7739
7
(HPO:0001522) Death in infancy 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mayatepek and Flock (1998) described the inability to synthesize LTC4, thought to be due to a primary deficiency of LTC4 synthase (LTC4S; 246530), in an infant with a fatal developmental syndrome. The infant presented with muscular hypotonia, psychomotor ...