Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder.
It was first reported in 1973 by N. Bilginturan et al. The estimated prevalence is less than 1 out of 1,000,000.
Symptoms
The disorder is characterized by:
* severe salt-independent but age-dependent
hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms. Long-term high bl ...
*
brachydactyly
Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger". The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an in ...
malformations of the hands and fingers
* increased
fibroblast
A fibroblast is a type of cell (biology), biological cell that synthesizes the extracellular matrix and collagen, produces the structural framework (Stroma (tissue), stroma) for animal Tissue (biology), tissues, and plays a critical role in wound ...
growth rate
* neurovascular contact at the rostral-ventrolateral medulla
* altered
baroreflex
The baroreflex or
baroreceptor reflex is one of the body's homeostatic mechanisms that helps to maintain blood pressure at nearly constant levels. The baroreflex provides a rapid negative feedback loop in which an elevated blood pressure causes the ...
blood pressure regulation
* death from
stroke
A stroke is a medical condition in which poor blood flow to the brain causes cell death. There are two main types of stroke: ischemic, due to lack of blood flow, and hemorrhagic, due to bleeding. Both cause parts of the brain to stop functionin ...
before age 50 years when untreated
Genetics
The disorder is thought to be related to mutations in the
PDE3A
PDE3 is a phosphodiesterase. The PDEs belong to at least eleven related gene families, which are different in their primary structure, substrate affinity, responses to effectors, and regulation mechanism.
Most of the PDE families are composed of ...
gene.
Treatment
References
External links
{{Medical resources
, ICD10 = Q73.8
, ICD9 =
, ICDO =
, OMIM = 112410
, DiseasesDB =
, MedlinePlus =
, eMedicineSubj =
, eMedicineTopic =
, MeSH =
, GeneReviewsNBK =
, GeneReviewsName =
, Orphanet = 1276
Genetic diseases and disorders
Syndromes