HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment. Amelogenesis imperfecta may also be present in some patients. [From OMIM]
Endocrine, nutritional and metabolic diseases
Metabolic disorders
1p34.2
HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment. Amelogenesis imperfecta may also be present in some patients. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 248190.1.1 | United Arab Emirates | Female | Yes | Yes | Polyuria; Polydipsia; Myopia; Exodeviati... Polyuria; Polydipsia; Myopia; Exodeviation; Retinal dystrophy; Exotropia; Medullary nephrocalcinosis  | NM_148960.3:c.241C>T | Homozygous | Autosomal, Recessive | Al-Shibli et al. 2013 | |
| 248190.1.2 | United Arab Emirates | Female | Yes | Yes | Renal insufficiency; Nephrocalcinosis; C... Renal insufficiency; Nephrocalcinosis; Cataract; Horizontal nystagmus; Chorioretinal degeneration | NM_148960.3:c.241C>T | Homozygous | Autosomal, Recessive | Al-Shibli et al. 2013 | Sister of 248190.1.1 |
| 248190.1.3 | United Arab Emirates | Female | Yes | Yes | Myopia; Abnormal glomerular filtration r... Myopia; Abnormal glomerular filtration rate | NM_148960.3:c.241C>T | Homozygous | Autosomal, Recessive | Al-Shibli et al. 2013 | Cousin of 248190.1.1 |