Childhood-onset hypophosphatasia

General Information (adopted from Orphanet):

Synonyms, Signs: Childhood-onset Rathburn disease
Childhood-onset phosphoethanolaminuria
Number of Symptoms 27
OrphanetNr: 247667
OMIM Id: 241510
ICD-10: E83.3
UMLs: C0220743
MeSH:
MedDRA:
Snomed: 30174008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: Infancy
Childhood
25731960 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Hypophosphatasia
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with odontological manifestation
 -Rare odontologic disease

Comment:

This family report indicates that mapping ALPL mutations within the gene does not necessarily help to predict the clinical severity of the phenotype (PMID:24569605).

Symptom Information: Sort by abundance 

1
 (HPO:0003282) Low alkaline phosphatase 25731960; 24569605 IBIS 7 / 7739
2
 (HPO:0000765) Abnormality of the thorax 24569605 IBIS 64 / 7739
3
 (HPO:0002857) Genu valgum 24569605 IBIS 144 / 7739
4
 (HPO:0003326) Myalgia 24569605 IBIS 143 / 7739
5
 (HPO:0000682) Abnormality of dental enamel 24569605 IBIS 102 / 7739
6
 (HPO:0006323) Premature loss of primary teeth 19232125; 25731960; 24569605 IBIS 18 / 7739
7
 (HPO:0002515) Waddling gait 25731960 IBIS 56 / 7739
8
 (HPO:0002194) Delayed gross motor development 25731960 IBIS 37 / 7739
9
 (HPO:0001324) Muscle weakness 25731960 IBIS 859 / 7739
10
 (HPO:0002516) Increased intracranial pressure 25731960 IBIS 47 / 7739
11
 (HPO:0000929) Abnormality of the skull 25731960 IBIS 53 / 7739
12
 (HPO:0001363) Craniosynostosis 18769927; 25731960 IBIS 132 / 7739
13
 (HPO:0100717) Abnormality of the cementum 25731960 IBIS 2 / 7739
14
 (HPO:0002748) Rickets 25731960 IBIS 41 / 7739
15
 (HPO:0003491) Elevated urine pyrophosphate 2 / 7739
16
 (HPO:0003239) Phosphoethanolaminuria 3 / 7739
17
 (HPO:0000670) Carious teeth 145 / 7739
18
 (HPO:0002007) Frontal bossing 366 / 7739
19
 (HPO:0000520) Proptosis 192 / 7739
20
 (HPO:0000268) Dolichocephaly 144 / 7739
21
 (HPO:0001250) Seizures 1245 / 7739
22
 (HPO:0000897) Rachitic rosary 5 / 7739
23
 (HPO:0002979) Bowing of the legs 28 / 7739
24
 (HPO:0004322) Short stature 1232 / 7739
25
 (HPO:0001024) Skin dimple over apex of long bone angulation 3 / 7739
26
 (HPO:0011864) Elevated plasma pyrophosphate 2 / 7739
27
 (HPO:0003198) Myopathy 151 / 7739

Associated genes:

ALPL;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal (see 241500), ...
Clinical Description OMIM Hu et al. (2000) described a 4-generation Texas family segregating autosomal dominant hypophosphatasia in both children and adults. The probands were a 6-year-old girl and her twin brother, who exhibited enamel hypoplasia and the premature loss of fully rooted ...
Molecular genetics OMIM In 2 sibs with the mild childhood form of hypophosphatasia, Henthorn et al. (1992) identified compound heterozygosity for 2 missense mutations in the ALPL gene (171760.0003 and 171760.0008).

In an 11-year-old child with hypophosphatasia, Zurutuza et al. ...