MCID: HYP648
MIFTS: 23

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 51 24 69
Brachydactyly with Hypertension 47 24 69 26 67
Bilginturan Syndrome 47 24 53 69
Htnb 47 24 69
Brachydactyly, Type E, with Short Stature and Hypertension 24 69
 
Brachydactyly Type E with Short Stature and Hypertension 47 69
Brachydactyly Type E, with Short Stature and Hypertension 53
Brachydactyly-Arterial Hypertension Syndrome 53
Hypertension with Brachydactyly 12
Bilginturan Brachydactyly 53

Characteristics:

Orphanet epidemiological data:

53
bilginturan syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
hypertension and brachydactyly syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 112410
Orphanet53 ORPHA1276
ICD10 via Orphanet30 Q73.8
MedGen36 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

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UniProtKB/Swiss-Prot:69 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:51 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
1brachydactyly9.7
2familial hypertension9.7

Symptoms for Hypertension and Brachydactyly Syndrome

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Symptoms by clinical synopsis from OMIM:

112410

Clinical features from OMIM:

112410

Human phenotypes related to Hypertension and Brachydactyly Syndrome:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension63 53 hallmark (90%) Very frequent (99-80%) HP:0000822
2 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
3 abnormality of the metacarpal bones63 hallmark (90%) HP:0001163
4 abnormality of finger63 hallmark (90%) HP:0001167
5 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cone-shaped epiphysis63 rare (5%) HP:0010579
7 short phalanx of finger63 53 Very frequent (99-80%) HP:0009803
8 short metacarpal63 53 Very frequent (99-80%) 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 Hypertension26
2 Hypertension and Brachydactyly Syndrome24 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

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MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

35
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:

69
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)SNVPathogenicrs794726864GRCh38Chr 12, 20616294: 20616294
2PDE3ANM_000921.4(PDE3A): c.1333A> G (p.Thr445Ala)SNVPathogenicrs794726865GRCh38Chr 12, 20616293: 20616293
3PDE3ANM_000921.4(PDE3A): c.1334C> G (p.Thr445Ser)SNVPathogenicrs794726864GRCh38Chr 12, 20616294: 20616294
4PDE3ANM_000921.4(PDE3A): c.1339G> A (p.Ala447Thr)SNVPathogenicrs794726866GRCh38Chr 12, 20616299: 20616299
5PDE3ANM_000921.4(PDE3A): c.1340C> T (p.Ala447Val)SNVPathogenicrs794726867GRCh38Chr 12, 20616300: 20616300
6PDE3ANM_000921.4(PDE3A): c.1346G> T (p.Gly449Val)SNVPathogenicrs794726868GRCh38Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet