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

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Aliases & Descriptions for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 52 24 70
Brachydactyly with Hypertension 48 24 70 27 68
Bilginturan Syndrome 48 24 54 70
Htnb 48 24 70
Brachydactyly, Type E, with Short Stature and Hypertension 24 70
 
Brachydactyly Type E with Short Stature and Hypertension 48 70
Brachydactyly Type E, with Short Stature and Hypertension 54
Brachydactyly-Arterial Hypertension Syndrome 54
Hypertension with Brachydactyly 12
Bilginturan Brachydactyly 54

Characteristics:

Orphanet epidemiological data:

54
bilginturan syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
hypertension and brachydactyly syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 112410
Orphanet54 ORPHA1276
ICD10 via Orphanet31 Q73.8
MedGen37 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). Affiliated tissues include bone.

OMIM:52 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

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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 & Phenotypes 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:

 54 64 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension64 54 Very frequent (99-80%) HP:0000822
2 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
3 short stature64 54 Very frequent (99-80%) HP:0004322
4 short phalanx of finger64 54 Very frequent (99-80%) HP:0009803
5 short metacarpal64 54 Very frequent (99-80%) HP:0010049
6 cone-shaped epiphysis64 HP:0010579

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 Hypertension27
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:

36
Bone

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet