Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. [From Orphanet]
Endocrine, nutritional and metabolic diseases
Obesity and other hyperalimentation
Autosomal recessive
5q15
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600955.1 | United Arab Emirates | Unknown | Cerebral hemorrhage; Diarrhea Cerebral hemorrhage; Diarrhea  | NM_000439.5:c.1312C>T | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2016 |