Find a healthcare providerADDITIONAL RARE GENETIC DISEASES OF OBESITY
What causes SRC1 deficiency?
SRC1 deficiency is caused by a variant or change in the NCOA1 gene, which plays a role in the melanocortin-4 receptor (MC4R) pathway.
The MC4R pathway is responsible for sending messages to our brains and bodies that we are full after eating. Variants or changes in the NCOA1 gene can stop a part of this pathway from working and prevent this important message from being sent.
How is SRC1 inherited?
SRC1 deficiency is inherited in an autosomal dominant manner. This means that someone with SRC1 deficiency will have one copy of the genetic variant that causes the condition. You inherit an autosomal dominant disorder from only one parent who is a carrier for that condition.
What are the key clinical features of SRC1 deficiency?
Early-onset, severe obesity
Insatiable hunger/hyperphagia
High levels of leptin
High levels of insulin
What causes SH2B1 deficiency?
SH2B1 deficiency is caused by a variant or change in the SH2B1 gene, which plays a role in the MC4R pathway. SH2B1 deficiency can also be caused by a deletion in the 16p11.2 chromosomal region.
The MC4R pathway is responsible for sending messages to our brains and bodies that we are full after eating. Variants or changes in the SH2B1 gene and 16p11.2 chromosomal deletions can stop a part of this pathway from working and prevent this important message from being sent.
How is SH2B1 inherited?
SH2B1 deficiency is inherited in an autosomal dominant manner. This means that someone with SH2B1 deficiency will have one copy of the genetic variant that causes the condition. You inherit an autosomal dominant disorder from only one parent who is a carrier for that condition.
What are the key clinical features of SH2B1 deficiency?
Early-onset, severe obesity
Insatiable hunger/hyperphagia
High levels of leptin
High levels of insulin
Reduced final height
disease of obesity?
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