HTNB
MCID: HYP648
MIFTS: 26

Hypertension and Brachydactyly Syndrome (HTNB)

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

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

MalaCards integrated aliases for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 58 76 41
Brachydactyly with Hypertension 58 54 76 30 6 74
Bilginturan Syndrome 58 54 60 76
Htnb 58 54 76
Brachydactyly, Type E, with Short Stature and Hypertension 58 76
Brachydactyly Type E with Short Stature and Hypertension 54 76
Brachydactyly Type E, with Short Stature and Hypertension 60
Brachydactyly-Arterial Hypertension Syndrome 60
Hypertension with Brachydactyly 13
Bilginturan Brachydactyly 60

Characteristics:

Orphanet epidemiological data:

60
brachydactyly-arterial hypertension syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
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:

33
hypertension and brachydactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 112410
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1862170
Orphanet 60 ORPHA1276
MedGen 43 C1862170
UMLS 74 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone, and related phenotypes are hypertension and short stature

OMIM : 58 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 : 77 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 10.1
2 familial hypertension 9.9

Symptoms & Phenotypes for Hypertension and Brachydactyly Syndrome

Human phenotypes related to Hypertension and Brachydactyly Syndrome:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
5 short phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009803
6 cone-shaped epiphysis 33 occasional (7.5%) HP:0010579

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

42
Bone

Publications for Hypertension and Brachydactyly Syndrome

Articles related to Hypertension and Brachydactyly Syndrome:

# Title Authors Year
1
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome). ( 30209282 )
2018
2
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
3
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. ( 25961942 )
2015
4
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. ( 9042935 )
1997
5
Hereditary brachydactyly associated with hypertension. ( 4774535 )
1973

Variations for Hypertension and Brachydactyly Syndrome

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

76
# 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 (show all 12)
# 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.1334C> A (p.Thr445Asn) single nucleotide variant Pathogenic rs794726864 GRCh37 Chromosome 12, 20769228: 20769228
3 PDE3A NM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala) single nucleotide variant Pathogenic rs794726865 GRCh38 Chromosome 12, 20616293: 20616293
4 PDE3A NM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala) single nucleotide variant Pathogenic rs794726865 GRCh37 Chromosome 12, 20769227: 20769227
5 PDE3A NM_000921.4(PDE3A): c.1334C> G (p.Thr445Ser) single nucleotide variant Pathogenic rs794726864 GRCh38 Chromosome 12, 20616294: 20616294
6 PDE3A NM_000921.4(PDE3A): c.1334C> G (p.Thr445Ser) single nucleotide variant Pathogenic rs794726864 GRCh37 Chromosome 12, 20769228: 20769228
7 PDE3A NM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic rs794726866 GRCh38 Chromosome 12, 20616299: 20616299
8 PDE3A NM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic rs794726866 GRCh37 Chromosome 12, 20769233: 20769233
9 PDE3A NM_000921.4(PDE3A): c.1340C> T (p.Ala447Val) single nucleotide variant Pathogenic rs794726867 GRCh38 Chromosome 12, 20616300: 20616300
10 PDE3A NM_000921.4(PDE3A): c.1340C> T (p.Ala447Val) single nucleotide variant Pathogenic rs794726867 GRCh37 Chromosome 12, 20769234: 20769234
11 PDE3A NM_000921.4(PDE3A): c.1346G> T (p.Gly449Val) single nucleotide variant Pathogenic rs794726868 GRCh38 Chromosome 12, 20616306: 20616306
12 PDE3A NM_000921.4(PDE3A): c.1346G> T (p.Gly449Val) single nucleotide variant Pathogenic rs794726868 GRCh37 Chromosome 12, 20769240: 20769240

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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