75735-1
BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Active
Term Description
Predictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member.
Part Descriptions
LP185951-3 BMPR1A gene
The BMPR1A gene encodes the bone morphogenetic protein receptor 1A protein. More than 60 mutations in the BMPR1A gene have been found to cause juvenile polyposis syndrome. Most BMPR1A gene mutations result in the production of an abnormally short, nonfunctional protein. As a result, the BMPR1A protein cannot bind to ligands in the TGF-β pathway. This disruption in binding interferes with the activation of the SMAD protein complex. This inactive complex is not transported to the nucleus, where it is needed to regulate cell growth and the activity of certain genes. Unregulated cell growth can lead to polyp formation in people with juvenile polyposis syndrome.
Source: Genetic Home Reference, National Library of Medicine,
BMPR1A gene
LP185951-3 BMPR1A gene
The BMPR1A gene (bone morphogenetic protein receptor, type IA) [HGNC Gene ID:1076] is located on chromosome 10q22.3. The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] [NCBI Gene ID:657]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- BMPR1A gene mutation analysis limited to known familial mutations:
Find: Pt: Bld/Tiss: Doc: Molgen - Long Common Name
- BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
- Short Name
- BMPR1A Fam Mut Anl Bld/T
- Display Name
- BMPR1A gene familial mut analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- BMPR1A gene familial variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- BMPR1A gene mutation analysis limited to known familial mutations
LP227803-6
- Analyte
- BMPR1A gene mutation analysis limited to known familial mutations
LP227803-6
- Component Numerator
- BMPR1A gene mutation analysis limited to known familial mutations
LP227803-6
- Component Numerator Core
- BMPR1A gene
LP185951-3
- Component Numerator Core Suffix
- mutation analysis limited to known familial mutations
LP135775-7
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Doc
LP32888-7
- Method
- Molgen
LP6404-0
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen BMPR1A mutační analýza omezená na známé familiární mutace: |
| el-GR | Greek (Greece) | Γονίδιο BMPR1A ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις: Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο BMPR1A Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική |
| es-ES | Spanish (Spain) | Gen BMPR1A Análisis de mutaciones limitado al conocimiento de las mutaciones familiares: |
| es-MX | Spanish (Mexico) | Análisis de mutación del gen BMPR1A limitado a mutaciones familiares conocidas: |
| fr-FR | French (France) | BMPR1A gène mutation recherche limitée aux mutations familiales connues: |
| it-IT | Italian (Italy) | gene BMPR1A, analisi di mutazione limitata a mutazioni familiari note: Synonyms: Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BMPR1A-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties: Synonyms: BMPR1A gen molgen |
| pl-PL | Polish (Poland) | BMPR1A gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji: Synonyms: diagnostyka molekularna Gen BMPR1A |
| tr-TR | Turkish (Turkey) | BMPR1A geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış: |
| zh-CN | Chinese (China) | BMPR1A 基因 局限于已知家族性突变的突变分析: Synonyms: 临床文档型; |
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