HTNB
MCID: HYP648
MIFTS: 42

Hypertension and Brachydactyly Syndrome (HTNB)

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

Aliases & Classifications for Hypertension and Brachydactyly Syndrome

MalaCards integrated aliases for Hypertension and Brachydactyly Syndrome:

Name: Hypertension and Brachydactyly Syndrome 57 12 72 15 39
Brachydactyly with Hypertension 57 12 20 72 44 70
Bilginturan Syndrome 57 12 20 58 72
Htnb 57 12 20 72
Brachydactyly-Arterial Hypertension Syndrome 58 29 6
Brachydactyly, Type E, with Short Stature and Hypertension 57 72
Brachydactyly Type E with Short Stature and Hypertension 20 72
Bilginturan Brachydactyly 12 58
Brachydactyly Type E, with Short Stature and Hypertension 58
Type E Brachydactyly with Short Stature and Hypertension 12
Hypertension with Brachydactyly 13

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-arterial hypertension syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
severe hypertension develops in childhood
increasing hypertension with increasing age
by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives
death from stroke if untreated


HPO:

31
hypertension and brachydactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111247
OMIM® 57 112410
SNOMED-CT 67 720568003
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1862170
Orphanet 58 ORPHA1276
MedGen 41 C1862170
UMLS 70 C1862170

Summaries for Hypertension and Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 72 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, type e1 and brachydactyly. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and G alpha (s) signalling events. Affiliated tissues include bone, and related phenotypes are hypertension and short stature

Disease Ontology : 12 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, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has material basis in heterozygous mutation in PDE3A on 12p12.2.

OMIM® : 57 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). (112410) (Updated 20-May-2021)

Wikipedia : 73 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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type e1 31.7 PTHLH HOXD13
2 brachydactyly 29.6 TRPS1 PTHLH PDE4D PDE3A HOXD13 CISTR
3 eiken syndrome 10.2 PTHLH PTH1R
4 hypercalcemia, infantile, 1 10.1 PTHLH PTH1R
5 pseudopseudohypoparathyroidism 10.1 PTHLH PDE4D
6 chondromyxoid fibroma 10.1 PTHLH PTH1R
7 metaphyseal chondrodysplasia, jansen type 10.1 PTHLH PTH1R
8 metachondromatosis 10.1 PTHLH PTH1R
9 syndactyly, type v 10.1 PTHLH HOXD13
10 brachydactyly, type e2 10.1 PTHLH HOXD13
11 failure of tooth eruption, primary 10.1 PTHLH PTH1R
12 brachydactyly, type a3 10.1 HOXD13 CISTR
13 chondrodysplasia, blomstrand type 10.1 PTHLH PTH1R
14 multiple enchondromatosis, maffucci type 10.1 PTHLH PTH1R
15 hypertension, essential 10.1
16 enchondromatosis, multiple, ollier type 10.1 PTHLH PTH1R
17 osseous heteroplasia, progressive 10.0 PTHLH PDE4D PDE3A
18 chondroblastoma 10.0 PTHLH PTH1R
19 familial hypertension 10.0
20 sugarman brachydactyly 10.0 IFT140 HOXD13
21 pseudohypoparathyroidism, type ib 10.0 PTHLH PTH1R
22 hyperaldosteronism, familial, type i 9.9
23 liddle syndrome 1 9.9
24 apparent mineralocorticoid excess 9.9
25 stroke, ischemic 9.9
26 pica disease 9.9
27 pseudohypoaldosteronism 9.9
28 short-rib thoracic dysplasia 7 with or without polydactyly 9.9 MATN3 IFT140
29 brachydactyly, type a1 9.9 PTHLH PTH1R HOXD13
30 parathyroid gland disease 9.9 PTHLH PTH1R
31 metaphyseal dysplasia 9.9 PTHLH PTH1R MATN3
32 pseudohypoparathyroidism, type ia 9.8 PTHLH PTH1R PDE4D PDE3A
33 pseudohypoparathyroidism 9.8 TRPS1 PTHLH PTH1R PDE4D
34 mineral metabolism disease 9.8 PTHLH PTH1R
35 osteochondrodysplasia 9.7 PTHLH PTH1R MATN3
36 bone disease 9.7 PTHLH PTH1R MATN3
37 bone development disease 9.6 PTHLH PTH1R MATN3 HOXD13
38 acrodysostosis 9.6 PTHLH PTH1R PDE4D PDE3A HOXD13

Graphical network of the top 20 diseases related to Hypertension and Brachydactyly Syndrome:



Diseases related to Hypertension and Brachydactyly Syndrome

Symptoms & Phenotypes for Hypertension and Brachydactyly Syndrome

Human phenotypes related to Hypertension and Brachydactyly Syndrome:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
5 short phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009803
6 cone-shaped epiphysis 31 occasional (7.5%) HP:0010579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Neurologic Central Nervous System:
altered baroreflex blood pressure regulation
neurovascular contact at the rostral-ventrolateral medulla

Skeletal Feet:
thickening of phalangeal bones
shortening of phalangeal bones
thickening of metatarsal bones
shortening of metatarsal bones
fusion of middle and distal phalanges of fifth toes (in some patients)

Cardiovascular Vascular:
severe hypertension, salt-independent
altered baroreflex blood pressure regulation

Skeletal Hands:
brachydactyly, type e
thickening of metacarpal bones
shortening of metacarpal bones
thickening of phalangeal bones
shortening of phalangeal bones
more

Clinical features from OMIM®:

112410 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hypertension and Brachydactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 IFT140 PTH1R PTHLH TRIM37 TRPS1
2 digestive/alimentary MP:0005381 9.65 HOXD13 IFT140 PTH1R PTHLH TRPS1
3 limbs/digits/tail MP:0005371 9.55 HOXD13 IFT140 MATN3 PTH1R PTHLH
4 respiratory system MP:0005388 9.35 CUL7 IFT140 PTH1R PTHLH TRPS1
5 skeleton MP:0005390 9.23 CUL7 HOXD13 IFT140 MATN3 PTH1R PTHLH

Drugs & Therapeutics for Hypertension and Brachydactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Hypertension and Brachydactyly Syndrome

Cochrane evidence based reviews: brachydactyly with hypertension

Genetic Tests for Hypertension and Brachydactyly Syndrome

Genetic tests related to Hypertension and Brachydactyly Syndrome:

# Genetic test Affiliating Genes
1 Brachydactyly-Arterial Hypertension Syndrome 29 PDE3A

Anatomical Context for Hypertension and Brachydactyly Syndrome

MalaCards organs/tissues related to Hypertension and Brachydactyly Syndrome:

40
Bone

Publications for Hypertension and Brachydactyly Syndrome

Articles related to Hypertension and Brachydactyly Syndrome:

(show all 18)
# Title Authors PMID Year
1
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 57 6
25961942 2015
2
Hereditary brachydactyly associated with hypertension. 57 6
4774535 1973
3
PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. 6 61
31589936 2020
4
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. 57 61
9042935 1997
5
Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. 57
18086950 2008
6
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 57
12959913 2003
7
Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p. 57
12761042 2003
8
Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly. 57
9930264 1998
9
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. 57
9696728 1998
10
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. 57
9415685 1997
11
Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly. 57
9303020 1997
12
Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. 57
8952601 1996
13
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. 57
8673114 1996
14
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. 57
7702088 1995
15
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation. 61
31549136 2020
16
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome). 61
30209282 2018
17
A PDE3A mutation in familial hypertension and brachydactyly syndrome. 61
27053290 2016
18
Arterial hypertension with brachydactyly in a 15-year-old boy. 61
12811651 2003

Variations for Hypertension and Brachydactyly Syndrome

ClinVar genetic disease variations for Hypertension and Brachydactyly Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE3A NM_000921.4(PDE3A):c.1334C>A (p.Thr445Asn) SNV Pathogenic 193020 rs794726864 GRCh37: 12:20769228-20769228
GRCh38: 12:20616294-20616294
2 PDE3A NM_000921.4(PDE3A):c.1333A>G (p.Thr445Ala) SNV Pathogenic 193021 rs794726865 GRCh37: 12:20769227-20769227
GRCh38: 12:20616293-20616293
3 PDE3A NM_000921.4(PDE3A):c.1334C>G (p.Thr445Ser) SNV Pathogenic 193022 rs794726864 GRCh37: 12:20769228-20769228
GRCh38: 12:20616294-20616294
4 PDE3A NM_000921.4(PDE3A):c.1339G>A (p.Ala447Thr) SNV Pathogenic 193023 rs794726866 GRCh37: 12:20769233-20769233
GRCh38: 12:20616299-20616299
5 PDE3A NM_000921.4(PDE3A):c.1340C>T (p.Ala447Val) SNV Pathogenic 193024 rs794726867 GRCh37: 12:20769234-20769234
GRCh38: 12:20616300-20616300
6 PDE3A NM_000921.4(PDE3A):c.1346G>T (p.Gly449Val) SNV Pathogenic 193025 rs794726868 GRCh37: 12:20769240-20769240
GRCh38: 12:20616306-20616306
7 PDE3A NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp) SNV Pathogenic 977321 GRCh37: 12:20769240-20769240
GRCh38: 12:20616306-20616306
8 PDE3A NM_001244683.1(PDE3A):c.358_360ACC[3] (p.Thr123del) Microsatellite Likely pathogenic 690366 rs1592115698 GRCh37: 12:20769218-20769220
GRCh38: 12:20616284-20616286

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

72
# 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 rs794726864
4 PDE3A p.Ala447Thr VAR_073872 rs794726866
5 PDE3A p.Ala447Val VAR_073873 rs794726867
6 PDE3A p.Gly449Val VAR_073874 rs794726868

Expression for Hypertension and Brachydactyly Syndrome

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

Pathways for Hypertension and Brachydactyly Syndrome

Pathways related to Hypertension and Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 PTHLH PTH1R PDE4D
2 11.09 PTHLH PTH1R PDE4D PDE3A
3 11.07 PTHLH PTH1R
4 10.75 PTHLH PTH1R

GO Terms for Hypertension and Brachydactyly Syndrome

Biological processes related to Hypertension and Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.43 IFT140 HOXD13
2 bone mineralization GO:0030282 9.4 PTHLH PTH1R
3 cAMP-mediated signaling GO:0019933 9.37 PDE4D PDE3A
4 limb morphogenesis GO:0035108 9.32 IFT140 HOXD13
5 negative regulation of cAMP-mediated signaling GO:0043951 9.26 PDE4D PDE3A
6 osteoblast development GO:0002076 9.16 PTHLH PTH1R
7 skeletal system development GO:0001501 9.02 TRPS1 PTHLH PTH1R MATN3 HOXD13
8 regulation of chondrocyte differentiation GO:0032330 8.96 TRPS1 PTHLH

Molecular functions related to Hypertension and Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 9.16 PDE4D PDE3A
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 8.96 PDE4D PDE3A
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 8.62 PDE4D PDE3A

Sources for Hypertension and Brachydactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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