HTNB
MCID: HYP648
MIFTS: 26

Hypertension and Brachydactyly Syndrome (HTNB)

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 57 75 40
Brachydactyly with Hypertension 57 53 75 29 6 73
Bilginturan Syndrome 57 53 59 75
Htnb 57 53 75
Brachydactyly, Type E, with Short Stature and Hypertension 57 75
Brachydactyly Type E with Short Stature and Hypertension 53 75
Brachydactyly Type E, with Short Stature and Hypertension 59
Brachydactyly-Arterial Hypertension Syndrome 59
Hypertension with Brachydactyly 13
Bilginturan Brachydactyly 59

Characteristics:

Orphanet epidemiological data:

59
brachydactyly-arterial hypertension syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
hypertension and brachydactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 112410
Orphanet 59 ORPHA1276
ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 74 C1862170
MedGen 42 C1862170
UMLS 73 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 75 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 brachydactyly

OMIM : 57 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 : 76 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 9.9
2 familial hypertension 9.8

Symptoms & Phenotypes for Hypertension and Brachydactyly Syndrome

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
2 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 short phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009803
5 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
6 cone-shaped epiphysis 32 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 29 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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