3-phosphoserine phosphatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PSPHD
Number of Symptoms 9
OrphanetNr: 79350
OMIM Id: 614023
ICD-10: E72.8
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: Neurometabolic disorder due to serine deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001276) Hypertonia 317 / 7739
6
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
7
 (HPO:0008897) Postnatal growth retardation 113 / 7739
8
 (HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jaeken et al. (1997) described a Belgian patient with phosphoserine phosphatase deficiency. The affected boy had pre- and postnatal growth retardation, moderate psychomotor retardation, and facial features suggestive of Williams syndrome (194050). Phosphoserine phosphatase activity in lymphoblasts and ...
Molecular genetics OMIM In the patient with phosphoserine phosphatase deficiency reported by Jaeken et al. (1997), Veiga-da-Cunha et al. (2004) identified compound heterozygosity for 2 mutations in the PSPH gene (172480.0001; 172480.0002). They noted that the PSPH gene is separated from ...