HTNB
MCID: HYP648
MIFTS: 23

Hypertension and Brachydactyly Syndrome (HTNB) malady

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

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

Aliases & Descriptions for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 54 24 66
Brachydactyly with Hypertension 50 24 66 29 69
Bilginturan Syndrome 50 24 56 66
Htnb 50 24 66
Brachydactyly, Type E, with Short Stature and Hypertension 24 66
Brachydactyly Type E with Short Stature and Hypertension 50 66
Brachydactyly Type E, with Short Stature and Hypertension 56
Brachydactyly-Arterial Hypertension Syndrome 56
Hypertension with Brachydactyly 13
Bilginturan Brachydactyly 56

Characteristics:

Orphanet epidemiological data:

56
brachydactyly-arterial hypertension syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
hypertension and brachydactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 112410
Orphanet 56 ORPHA1276
ICD10 via Orphanet 34 Q73.8
MedGen 40 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 66 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 syndrome. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.

OMIM : 54 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but... (112410) more...

Wikipedia : 71 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:

id Related Disease Score Top Affiliating Genes
1 brachydactyly 9.7
2 familial hypertension 9.7

Symptoms & Phenotypes for Hypertension and Brachydactyly Syndrome

Symptoms by clinical synopsis from OMIM:

112410

Clinical features from OMIM:

112410

Human phenotypes related to Hypertension and Brachydactyly Syndrome:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 56 32 Very frequent (99-80%) HP:0000822
2 short stature 56 32 Very frequent (99-80%) HP:0004322
3 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
4 short metacarpal 56 32 Very frequent (99-80%) HP:0010049
5 short phalanx of finger 56 32 Very frequent (99-80%) HP:0009803
6 cone-shaped epiphysis 32 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:

id Genetic test Affiliating Genes
1 Brachydactyly with Hypertension 29
2 Hypertension and Brachydactyly Syndrome 24 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

39
Bone

Publications for Hypertension and Brachydactyly Syndrome

Articles related to Hypertension and Brachydactyly Syndrome:

id Title Authors Year
1
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016

Variations for Hypertension and Brachydactyly Syndrome

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

66
id 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
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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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