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Type E Brachydactyly

Also Known As:

Brachydactyly, Type E

Networked: 15 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Brachydactyly: 129
      - Type E Brachydactyly: 15
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Brachydactyly: 129
        Type E Brachydactyly: 15

Related Diseases

1.	Hypertension (High Blood Pressure)
2.	Brachydactyly
3.	Liddle Syndrome
4.	Apparent Mineralocorticoid Excess Syndrome
5.	Stroke (Strokes)

Experts

1.	Mundlos, Stefan: 2 articles (06/2015 - 07/2013)
2.	Elli, Francesca M: 1 article (02/2021)
3.	Ertl, Diana Alexandra: 1 article (02/2021)
4.	Francou, Bruno: 1 article (02/2021)
5.	Hanna, Patrick: 1 article (02/2021)
6.	Linglart, Agnès: 1 article (02/2021)
7.	Mantovani, Giovanna: 1 article (02/2021)
8.	Pereda, Arrate: 1 article (02/2021)
9.	Perez de Nanclares, Guiomar: 1 article (02/2021)
10.	Rothenbuhler, Anya: 1 article (02/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type E Brachydactyly:

1.	Hormones (Hormone)IBA 12/01/2023 - "Mutations in PTHLH (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. " 12/01/2015 - "The syndromic form of brachydactyly type E is firmly associated with pseudo-hypopthyroidism as resistance to pthyroid hormone is the most prominent feature. " 07/20/2019 - "Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. "
2.	Proteins (Proteins, Gene)FDA Link 12/01/2013 - "In addition, in our cohort of 44 patients affected with brachydactyly type E (BDE) we detected only one sequence variant of PRKAR1A (p.Asp227Asn) with an unclear effect on protein function. " 01/01/2019 - "Our findings, in addition to identifying the genetic cause of brachydactyly in two unrelated kindreds, emphasize the role of pathogenic TRPS1 variants in the development of brachydactyly type E and highlight the GATA DNA-binding region of TRPS1 protein with respect to phenotype-genotype correlation."
3.	Parathyroid Hormone (Parathormone)IBA 07/20/2019 - "Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. " 01/01/2019 - "Herein we report two unrelated Turkish females who presented with brachydactyly type E and vitamin D deficiency in the absence of marked alterations in serum calcium, phosphate, and parathyroid hormone. "
4.	Type 3 Cyclic Nucleotide PhosphodiesterasesIBA 06/01/2015 - "Here we report six missense mutations in PDE3A (encoding phosphodiesterase 3A) in six unrelated families with mendelian hypertension and brachydactyly type E (HTNB). "
5.	GlypicansIBA 04/01/2002 - "Glypican 1 gene: good candidate for brachydactyly type E."
6.	Nonsense Codon (Nonsense Mutation)IBA 01/10/2012 - "Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report."
7.	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 01/01/2003 - "At least 9 monogenic forms of HT including Liddle syndrome, type I familial hyperaldosteronism (GRA) and type II familial hyperladosteronism, Gordon syndrome, apparent mineralocorticoid excess syndrome (AME), hypertension associated with type E brachydactyly, glucocorticoid receptor mutations, type IV congenital adrenal hyperplasia (CAH) (11 beta-hydroxylase deficiency), and type V CAH (17 alpha-hydroxylase deficiency) have been described so far."
8.	Growth Hormone (Somatotropin)IBA 11/15/2008 - "Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. "
9.	SaltsIBA 06/01/2015 - "The syndrome features brachydactyly type E (BDE), 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. "
10.	Glucocorticoid Receptors (Glucocorticoid Receptor)IBA 01/01/2003 - "At least 9 monogenic forms of HT including Liddle syndrome, type I familial hyperaldosteronism (GRA) and type II familial hyperladosteronism, Gordon syndrome, apparent mineralocorticoid excess syndrome (AME), hypertension associated with type E brachydactyly, glucocorticoid receptor mutations, type IV congenital adrenal hyperplasia (CAH) (11 beta-hydroxylase deficiency), and type V CAH (17 alpha-hydroxylase deficiency) have been described so far."