HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MABRY SYNDROME
HPMRS1
Number of Symptoms 35
OrphanetNr:
OMIM Id: 239300
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:0000303) Mandibular prognathia 179 / 7739
2
(HPO:0002714) Downturned corners of mouth 98 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000431) Wide nasal bridge 290 / 7739
5
(HPO:0002553) Highly arched eyebrow 92 / 7739
6
(HPO:0000175) Cleft palate 349 / 7739
7
(HPO:0000322) Short philtrum 130 / 7739
8
(HPO:0000455) Broad nasal tip 67 / 7739
9
(HPO:0001357) Plagiocephaly 106 / 7739
10
(HPO:0011800) Midface retrusion 221 / 7739
11
(HPO:0010804) Tented upper lip vermilion 47 / 7739
12
(HPO:0000637) Long palpebral fissure 21 / 7739
13
(HPO:0001344) Absent speech 57 / 7739
14
(HPO:0010864) Intellectual disability, severe 120 / 7739
15
(HPO:0000750) Delayed speech and language development 197 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0001182) Tapered finger 93 / 7739
18
(HPO:0009882) Short distal phalanx of finger 125 / 7739
19
(HPO:0001831) Short toe 52 / 7739
20
(HPO:0004378) Abnormality of the anus 34 / 7739
21
(HPO:0001545) Anteriorly placed anus 55 / 7739
22
(HPO:0001792) Small nail 55 / 7739
23
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
24
(HPO:0010547) Muscle flaccidity 466 / 7739
25
(HPO:0001324) Muscle weakness 859 / 7739
26
(HPO:0001252) Muscular hypotonia 990 / 7739
27
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
(OMIM) Anovestibular fistula (in some patients) 1 / 7739
29
(OMIM) Bilateral adducted forefoot (rare) 1 / 7739
30
(OMIM) Delayed myelinization (in some patients) 2 / 7739
31
(OMIM) Feeding problems necessitating tube feeding (in some patients) 1 / 7739
32
(OMIM) Moderate cortical atrophy (in some patients) 1 / 7739
33
(OMIM) Ventral septal defect (VSD) 2 / 7739
34
(OMIM) Athetoid and dystonic hand movements (in some patients) 1 / 7739
35
(OMIM) Curved nails 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HPMRS1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010).

...

Clinical Description OMIM Mabry et al. (1970) reported 3 sibs and a first cousin with severe mental retardation, seizures, various neurologic abnormalities, and greatly elevated alkaline phosphatase. Both pairs of parents were consanguineous. The alkaline phosphatase present in excess seemed to ...
Molecular genetics OMIM Using whole-exome capture and sequencing in combination with a Hidden Markov Model algorithm to detect regions of the genome that are identical by descent, Krawitz et al. (2010) identified a homozygous mutation in the PIGV gene (A341E; 610274.0001) ...