MCID: HYP648
MIFTS: 23

Hypertension and Brachydactyly Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

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Aliases & Descriptions for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 49 67
Brachydactyly with Hypertension 45 67 24 65
Brachydactyly Type E with Short Stature and Hypertension 45 67
Bilginturan Syndrome 45 67
 
Htnb 45 67
Brachydactyly, Type E, with Short Stature and Hypertension 67
Hypertension with Brachydactyly 11

Characteristics:

HPO:

61
hypertension and brachydactyly syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 112410
MedGen34 C1862170
UMLS65 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

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UniProtKB/Swiss-Prot:67 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-arterial hypertension syndrome and dilated cardiomyopathy, and has symptoms including short stature, abnormality of finger and abnormality of the metacarpal bones. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.

OMIM:49 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but... (112410) more...

Related Diseases for Hypertension and Brachydactyly Syndrome

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly-arterial hypertension syndrome11.4
2dilated cardiomyopathy10.1
3cardiomyopathy10.1
4dubin-johnson syndrome10.0
5retinoblastoma10.0
6arthritis10.0
7brain injury10.0
8traumatic brain injury10.0
9sleep apnea10.0
10obstructive sleep apnea10.0
11arthropathy10.0
12hyperbilirubinemia, rotor type, digenic9.7HTNB, PDE3A

Graphical network of diseases related to Hypertension and Brachydactyly Syndrome:



Diseases related to hypertension and brachydactyly syndrome

Symptoms for Hypertension and Brachydactyly Syndrome

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Symptoms by clinical synopsis from OMIM:

112410

Clinical features from OMIM:

112410

HPO human phenotypes related to Hypertension and Brachydactyly Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 abnormality of finger hallmark (90%) HP:0001167
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 brachydactyly syndrome hallmark (90%) HP:0001156
5 hypertension hallmark (90%) HP:0000822
6 cone-shaped epiphysis rare (5%) HP:0010579
7 short metacarpal HP:0010049
8 short phalanx of finger HP:0009803
9 short stature HP:0004322
10 brachydactyly syndrome HP:0001156
11 hypertension HP:0000822

Drugs & Therapeutics for Hypertension and Brachydactyly Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypertension and Brachydactyly Syndrome

Genetic Tests for Hypertension and Brachydactyly Syndrome

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Anatomical Context for Hypertension and Brachydactyly Syndrome

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MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

33
Bone

Animal Models for Hypertension and Brachydactyly Syndrome or affiliated genes

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Publications for Hypertension and Brachydactyly Syndrome

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Variations for Hypertension and Brachydactyly Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1PDE3Ap.Thr445AlaVAR_073869
2PDE3Ap.Thr445AsnVAR_073870
3PDE3Ap.Thr445SerVAR_073871
4PDE3Ap.Ala447ThrVAR_073872
5PDE3Ap.Ala447ValVAR_073873
6PDE3Ap.Gly449ValVAR_073874

Clinvar genetic disease variations for Hypertension and Brachydactyly Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDE3ANM_000921.4(PDE3A): c.1334C> A (p.Thr445Asn)single nucleotide variantPathogenicrs794726864GRCh38Chr 12, 20616294: 20616294
2PDE3ANM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala)single nucleotide variantPathogenicrs794726865GRCh38Chr 12, 20616293: 20616293
3PDE3APDE3A, THR445SERsingle nucleotide variantPathogenic
4PDE3ANM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr)single nucleotide variantPathogenicrs794726866GRCh38Chr 12, 20616299: 20616299
5PDE3ANM_000921.4(PDE3A): c.1340C> T (p.Ala447Val)single nucleotide variantPathogenicrs794726867GRCh37Chr 12, 20769234: 20769234
6PDE3ANM_000921.4(PDE3A): c.1346G> T (p.Gly449Val)single nucleotide variantPathogenicrs794726868GRCh38Chr 12, 20616306: 20616306

Expression for genes affiliated with Hypertension and Brachydactyly Syndrome

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

Pathways for genes affiliated with Hypertension and Brachydactyly Syndrome

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GO Terms for genes affiliated with Hypertension and Brachydactyly Syndrome

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Sources for Hypertension and Brachydactyly Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet