Hypophosphatemic rickets is a disorder caused by low serum concentrations of phosphate. It can result in slow growth, short stature, skeletal and dental abnormalities and osteomalacia.
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
4q22.1
Hypophosphatemic rickets is a disorder caused by low serum concentrations of phosphate. It can result in slow growth, short stature, skeletal and dental abnormalities and osteomalacia.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 241520.1.1 | Lebanon | Female | Yes | Yes | Short stature ; Genu varum ; Mandibula... Short stature ; Genu varum ; Mandibular prognathia ; Cranial hyperostosis ; Increased bone mineral density  | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Gannagé-Yared et al, 2014; Chouery et al. 2010 | |
| 241520.1.2 | Lebanon | Female | Yes | Yes | Short stature ; Genu varum ; Mandibu... Short stature ; Genu varum ; Mandibular prognathia ; Cranial hyperostosis ; Increased bone mineral density | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Gannagé-Yared et al, 2014; Chouery et al. 2010 | Sister of 241520.1.1 |
| 241520.2.1 | Lebanon | Male | Yes | Yes | Hypophosphatemia; Generalized osteoscler... Hypophosphatemia; Generalized osteosclerosis; Thickened calvaria | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Lorenz-Depiereux et al. 2006 | |
| 241520.2.2 | Lebanon | Female | Yes | Yes | Hypophosphatemia; Generalized osteoscler... Hypophosphatemia; Generalized osteosclerosis; Thickened calvaria | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Lorenz-Depiereux et al. 2006 | Sibling of 241520.2.... |
| 241520.2.3 | Lebanon | Male | Yes | Yes | Hypophosphatemia Hypophosphatemia | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Lorenz-Depiereux et al. 2006 | Sibling of 241520.2.... |
| 241520.2.4 | Lebanon | Male | Yes | Yes | Hypophosphatemic rickets Hypophosphatemic rickets | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Lorenz-Depiereux et al. 2006 | Nephew of 241520.2.1 |
| 241520.3 | Lebanon | Female | Yes | Renal phosphate wasting; Abnormal rib mo... Renal phosphate wasting; Abnormal rib morphology; Abnormality of the lower limb | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Feng et al. 2006 | ||
| 241520.4.1 | Lebanon | Female | Yes | Yes | Square face; High forehead; Proptosis; S... Square face; High forehead; Proptosis; Short stature; Genu varum; Hyperostosis; Sclerosis of skull base; Increased bone mineral density | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 241520.4.2 | Lebanon | Female | Yes | Yes | Square face; High forehead; Proptosis; S... Square face; High forehead; Proptosis; Short stature; Genu varum; Hyperostosis; Sclerosis of skull base; Increased bone mineral density | NM_004407.3:c.1A>G | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Sister of 241520.4.1 |