HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ARHR1
ARHR
ARHP
Number of Symptoms 7
OrphanetNr:
OMIM Id: 241520
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:0001363) Craniosynostosis 132 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
(HPO:0011001) Increased bone mineral density 78 / 7739
6
(HPO:0002148) Hypophosphatemia 43 / 7739
7
(OMIM) Vitamin D resistant infantile rickets 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lorenz-Depiereux et al. (2006) investigated 3 multiplex families in which the affected individuals showed clinical, biochemical, and histomorphometric parameters very similar to those observed in X-linked (see 307800) and autosomal dominant hypophosphatemic rickets (193100). However, inspection of the ...
Molecular genetics OMIM Lorenz-Depiereux et al. (2006) found that the candidate region for ARHP contained a cluster of genes encoding a class of tooth and bone noncollagenous matrix proteins that are referred to as SIBLING proteins (small integrin-binding ligand, N-linked glycoproteins). ...