MCID: HYP648
MIFTS: 26

Hypertension and Brachydactyly Syndrome

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

MalaCards integrated aliases for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 53 71
Brachydactyly with Hypertension 53 49 71 28 69
Bilginturan Syndrome 53 49 55 71
Htnb 53 49 71
Brachydactyly, Type E, with Short Stature and Hypertension 53 71
Brachydactyly Type E with Short Stature and Hypertension 49 71
Brachydactyly Type E, with Short Stature and Hypertension 55
Brachydactyly-Arterial Hypertension Syndrome 55
Hypertension with Brachydactyly 13
Bilginturan Brachydactyly 55

Characteristics:

Orphanet epidemiological data:

55
brachydactyly-arterial hypertension syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
severe hypertension develops in childhood
increasing hypertension with increasing age
by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives
death from stroke if untreated


HPO:

31
hypertension and brachydactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 112410
Orphanet 55 ORPHA1276
UMLS via Orphanet 70 C1862170
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1862170
UMLS 69 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 71 Hypertension and brachydactyly syndrome: A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals.

MalaCards based summary : Hypertension and Brachydactyly Syndrome, also known as brachydactyly with hypertension, is related to brachydactyly and familial hypertension, and has symptoms including hypertension, short stature and brachydactyly. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.

OMIM : 53 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). (112410)

Wikipedia : 72 Hypertension and brachydactyly syndrome (HTNB) also known as Bilginturan syndrome and brachydactyly type... more...

Related Diseases for Hypertension and Brachydactyly Syndrome

Diseases related to Hypertension and Brachydactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 9.8
2 familial hypertension 9.8

Symptoms & Phenotypes for Hypertension and Brachydactyly Syndrome

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
short stature

Neurologic Central Nervous System:
altered baroreflex blood pressure regulation
neurovascular contact at the rostral-ventrolateral medulla

Skeletal Feet:
thickening of phalangeal bones
shortening of phalangeal bones
thickening of metatarsal bones
shortening of metatarsal bones
fusion of middle and distal phalanges of fifth toes (in some patients)

Cardiovascular Vascular:
severe hypertension, salt-independent
altered baroreflex blood pressure regulation

Skeletal Hands:
brachydactyly, type e
thickening of metacarpal bones
shortening of metacarpal bones
thickening of phalangeal bones
shortening of phalangeal bones
more

Clinical features from OMIM:

112410

Human phenotypes related to Hypertension and Brachydactyly Syndrome:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 55 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010049
5 short phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009803
6 cone-shaped epiphysis 31 occasional (7.5%) HP:0010579

Drugs & Therapeutics for Hypertension and Brachydactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Hypertension and Brachydactyly Syndrome

Genetic Tests for Hypertension and Brachydactyly Syndrome

Genetic tests related to Hypertension and Brachydactyly Syndrome:

# Genetic test Affiliating Genes
1 Brachydactyly with Hypertension 28 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

38
Bone

Publications for Hypertension and Brachydactyly Syndrome

Articles related to Hypertension and Brachydactyly Syndrome:

# Title Authors Year
1
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
2
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. ( 9042935 )
1997

Variations for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hypertension and Brachydactyly Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 PDE3A p.Thr445Ala VAR_073869 rs794726865
2 PDE3A p.Thr445Asn VAR_073870 rs794726864
3 PDE3A p.Thr445Ser VAR_073871 rs794726864
4 PDE3A p.Ala447Thr VAR_073872 rs794726866
5 PDE3A p.Ala447Val VAR_073873 rs794726867
6 PDE3A p.Gly449Val VAR_073874 rs794726868

ClinVar genetic disease variations for Hypertension and Brachydactyly Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE3A NM_000921.4(PDE3A): c.1334C> A (p.Thr445Asn) single nucleotide variant Pathogenic rs794726864 GRCh38 Chromosome 12, 20616294: 20616294
2 PDE3A NM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala) single nucleotide variant Pathogenic rs794726865 GRCh38 Chromosome 12, 20616293: 20616293
3 PDE3A NM_000921.4(PDE3A): c.1334C> G (p.Thr445Ser) single nucleotide variant Pathogenic rs794726864 GRCh38 Chromosome 12, 20616294: 20616294
4 PDE3A NM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic rs794726866 GRCh38 Chromosome 12, 20616299: 20616299
5 PDE3A NM_000921.4(PDE3A): c.1340C> T (p.Ala447Val) single nucleotide variant Pathogenic rs794726867 GRCh38 Chromosome 12, 20616300: 20616300
6 PDE3A NM_000921.4(PDE3A): c.1346G> T (p.Gly449Val) single nucleotide variant Pathogenic rs794726868 GRCh38 Chromosome 12, 20616306: 20616306

Expression for Hypertension and Brachydactyly Syndrome

Search GEO for disease gene expression data for Hypertension and Brachydactyly Syndrome.

Pathways for Hypertension and Brachydactyly Syndrome

GO Terms for Hypertension and Brachydactyly Syndrome

Sources for Hypertension and Brachydactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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