HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17
HPMRS3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21
MRT21
MRT17
Number of Symptoms 17
OrphanetNr:
OMIM Id: 614207
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
5
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0002905) Hyperphosphatemia 18 / 7739
8
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739
10
 (HPO:0010547) Muscle flaccidity 466 / 7739
11
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
14
 (HPO:0003577) Congenital onset 133 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
17
 (OMIM) Disordered sleep pattern (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity ...
Clinical Description OMIM Rehman et al. (2011) reported a large 5-generation Pakistani family (MR5) with autosomal recessive nonsyndromic severe mental retardation.

Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR043) in which 3 individuals had nonsyndromic severe ...
Molecular genetics OMIM In affected members of the families with mental retardation reported by Abou Jamra et al. (2011) and Rehman et al. (2011), Hansen et al. (2013) identified 2 different homozygous missense mutations in the PGAP2 gene (615187.0001 and 615187.0002, ...