MCID: HYP648
MIFTS: 25

Hypertension and Brachydactyly Syndrome malady

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

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

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Aliases & Descriptions for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 50 23 68
Brachydactyly with Hypertension 46 23 68 25 66
Bilginturan Syndrome 46 23 52 68
Htnb 46 23 68
Brachydactyly, Type E, with Short Stature and Hypertension 23 68
 
Brachydactyly Type E with Short Stature and Hypertension 46 68
Brachydactyly Type E, with Short Stature and Hypertension 52
Brachydactyly-Arterial Hypertension Syndrome 52
Hypertension with Brachydactyly 12
Bilginturan Brachydactyly 52

Characteristics:

Orphanet epidemiological data:

52
bilginturan syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
hypertension and brachydactyly syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 112410
Orphanet52 ORPHA1276
ICD10 via Orphanet29 Q73.8
MedGen35 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

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UniProtKB/Swiss-Prot:68 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, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.

OMIM:50 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:

idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly9.8
2familial hypertension9.8
3hyperbilirubinemia, rotor type, digenic9.5HTNB, PDE3A

Symptoms for Hypertension and Brachydactyly Syndrome

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Symptoms by clinical synopsis from OMIM:

112410

Clinical features from OMIM:

112410

Symptoms:

 52
  • hypertension
  • brachydactyly syndrome
  • short stature
  • short phalanx of finger
  • short metacarpal

HPO human phenotypes related to Hypertension and Brachydactyly Syndrome:

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

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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Genetic tests related to Hypertension and Brachydactyly Syndrome:

id Genetic test Affiliating Genes
1 Brachydactyly with Hypertension25
2 Hypertension and Brachydactyly Syndrome23 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

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MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

34
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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Articles related to Hypertension and Brachydactyly Syndrome:

idTitleAuthorsYear
1
A PDE3A mutation in familial hypertension and brachydactyly syndrome. (27053290)
2016

Variations for Hypertension and Brachydactyly Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1PDE3Ap.Thr445AlaVAR_073869rs794726865
2PDE3Ap.Thr445AsnVAR_073870rs794726864
3PDE3Ap.Thr445SerVAR_073871
4PDE3Ap.Ala447ThrVAR_073872rs794726866
5PDE3Ap.Ala447ValVAR_073873rs794726867
6PDE3Ap.Gly449ValVAR_073874rs794726868

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 variantPathogenicrs794726864GRCh37Chr 12, 20769228: 20769228
2PDE3ANM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala)single nucleotide variantPathogenicrs794726865GRCh37Chr 12, 20769227: 20769227
3PDE3ANG_030033.1: g.252050C> Gsingle nucleotide variantPathogenicrs794726864GRCh38Chr 12, 20616294: 20616294
4PDE3ANM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr)single nucleotide variantPathogenicrs794726866GRCh37Chr 12, 20769233: 20769233
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 variantPathogenicrs794726868GRCh37Chr 12, 20769240: 20769240

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet